NBK1247 - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9818891.	NM_001135254.2(PAX7):c.602A>G (p.Glu201Gly) GRCh37: Chr1:19018263 GRCh38: Chr1:18691769	PAX7	E199G, E201G	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 9818852.	NM_032264.6(NBPF3):c.2T>C (p.Met1Thr) GRCh37: Chr1:21771581 GRCh38: Chr1:21445088	NBPF3	M1T	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 9818423.	NM_002167.5(ID3):c.145T>A (p.Ser49Thr) GRCh37: Chr1:23885773 GRCh38: Chr1:23559282	ID3	S49T	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 9818704.	NM_001020658.2(PUM1):c.229G>C (p.Asp77His) GRCh37: Chr1:31532185 GRCh38: Chr1:31059338	PUM1	D77H	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 9818355.	NM_001048174.2(MUTYH):c.1149del (p.Ser384fs) GRCh37: Chr1:45797182 GRCh38: Chr1:45331510	MUTYH	S269fs, S292fs, S384fs, S385fs, S395fs, S399fs, S409fs, S412fs	Hereditary breast ovarian cancer syndrome	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 4193866.	NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) GRCh37: Chr1:45798458 GRCh38: Chr1:45332786	MUTYH	R185W, R65W, R158W, R168W, R172W, R157W, R182W, R42W	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 1855127.	NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) GRCh37: Chr1:45799143 GRCh38: Chr1:45333471	MUTYH	R97Q, R84Q, R70Q, R69Q, R94Q, R80Q	not specified, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2, Familial cancer of breast, not provided	Conflicting interpretations of pathogenicity (Mar 8, 2023)	criteria provided, conflicting interpretations
Select item 2215748.	NM_003629.4(PIK3R3):c.797G>A (p.Arg266His) GRCh37: Chr1:46521611 GRCh38: Chr1:46055939	P3R3URF-PIK3R3, PIK3R3	R266H, R312H, R283H, R110H, R222H, R185H	Familial cancer of breast	Uncertain significance (Feb 1, 2014)	no assertion criteria provided
Select item 16788759.	NM_003579.4(RAD54L):c.62A>G (p.Asp21Gly) GRCh37: Chr1:46714242 GRCh38: Chr1:46248570	RAD54L	D21G	Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167891110.	NM_003579.4(RAD54L):c.95C>G (p.Pro32Arg) GRCh37: Chr1:46715676 GRCh38: Chr1:46250004	RAD54L	P32R	Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Oct 15, 2022)	criteria provided, conflicting interpretations
Select item 167893311.	NM_003579.4(RAD54L):c.144G>C (p.Leu48=) GRCh37: Chr1:46715725 GRCh38: Chr1:46250053	RAD54L		Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243169312.	NM_003579.4(RAD54L):c.214G>C (p.Ala72Pro) GRCh37: Chr1:46724361 GRCh38: Chr1:46258689	RAD54L	A72P	Familial cancer of breast	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 167897113.	NM_003579.4(RAD54L):c.272-21G>A GRCh37: Chr1:46725615 GRCh38: Chr1:46259943	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167899914.	NM_003579.4(RAD54L):c.352T>C (p.Leu118=) GRCh37: Chr1:46725716 GRCh38: Chr1:46260044	RAD54L		Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Likely benign (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167902015.	NM_003579.4(RAD54L):c.366G>A (p.Glu122=) GRCh37: Chr1:46725730 GRCh38: Chr1:46260058	RAD54L		Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167904016.	NM_003579.4(RAD54L):c.460C>T (p.Arg154Trp) GRCh37: Chr1:46726266 GRCh38: Chr1:46260594	RAD54L	R154W	Hereditary breast ovarian cancer syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 167908417.	NM_003579.4(RAD54L):c.477+37G>T GRCh37: Chr1:46726320 GRCh38: Chr1:46260648	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 98180818.	NM_003579.4(RAD54L):c.604C>T (p.Arg202Cys) GRCh37: Chr1:46726525 GRCh38: Chr1:46260853	RAD54L	R202C, R22C	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 167909019.	NM_003579.4(RAD54L):c.767-57G>T GRCh37: Chr1:46726876 GRCh38: Chr1:46261204	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167887620.	NM_003579.4(RAD54L):c.767A>T (p.Glu256Val) GRCh37: Chr1:46726933 GRCh38: Chr1:46261261	RAD54L	E256V, E76V	Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Likely benign (Sep 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168361021.	NM_003579.4(RAD54L):c.863del (p.Gly288fs) GRCh37: Chr1:46727028 GRCh38: Chr1:46261356	RAD54L	G108fs, G288fs	Familial cancer of breast	Uncertain significance (Jul 15, 2021)	criteria provided, single submitter
Select item 167888122.	NM_003579.4(RAD54L):c.892-26C>T GRCh37: Chr1:46733105 GRCh38: Chr1:46267433	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167888323.	NM_003579.4(RAD54L):c.894A>G (p.Gly298=) GRCh37: Chr1:46733133 GRCh38: Chr1:46267461	RAD54L		Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167888724.	NM_003579.4(RAD54L):c.1042+55G>C GRCh37: Chr1:46733336 GRCh38: Chr1:46267664	RAD54L		Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167889125.	NM_003579.4(RAD54L):c.1042+78G>A GRCh37: Chr1:46733359 GRCh38: Chr1:46267687	RAD54L		Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)	criteria provided, single submitter
Select item 98188226.	NM_003579.4(RAD54L):c.1094G>A (p.Arg365Gln) GRCh37: Chr1:46736382 GRCh38: Chr1:46270710	RAD54L	R185Q, R365Q	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 92973427.	NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) GRCh37: Chr1:46736426 GRCh38: Chr1:46270754	RAD54L	R200W, R380W	Hereditary breast ovarian cancer syndrome, Premature ovarian failure	Conflicting interpretations of pathogenicity (Apr 19, 2022)	criteria provided, conflicting interpretations
Select item 167889528.	NM_003579.4(RAD54L):c.1245-61del GRCh37: Chr1:46738282 GRCh38: Chr1:46272610	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167889829.	NM_003579.4(RAD54L):c.1245-38_1245-37delinsAT GRCh37: Chr1:46738306-46738307 GRCh38: Chr1:46272634-46272635	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 244450430.	NM_003579.4(RAD54L):c.1250C>T (p.Thr417Ile) GRCh37: Chr1:46738349 GRCh38: Chr1:46272677	RAD54L	T237I, T417I	Familial cancer of breast	Uncertain significance (Dec 12, 2022)	criteria provided, single submitter
Select item 167890431.	NM_003579.4(RAD54L):c.1299G>A (p.Pro433=) GRCh37: Chr1:46738398 GRCh38: Chr1:46272726	RAD54L		Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167890732.	NM_003579.4(RAD54L):c.1375+32T>C GRCh37: Chr1:46738506 GRCh38: Chr1:46272834	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167891233.	NM_003579.4(RAD54L):c.1393_1395del (p.Asp465del) GRCh37: Chr1:46739042-46739044 GRCh38: Chr1:46273370-46273372	RAD54L	D285del, D465del	Hereditary breast ovarian cancer syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 167891434.	NM_003579.4(RAD54L):c.1487-75G>A GRCh37: Chr1:46739221 GRCh38: Chr1:46273549	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167891735.	NM_003579.4(RAD54L):c.1487-11G>A GRCh37: Chr1:46739285 GRCh38: Chr1:46273613	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167892136.	NM_003579.4(RAD54L):c.1523C>T (p.Thr508Ile) GRCh37: Chr1:46739332 GRCh38: Chr1:46273660	RAD54L	T328I, T508I	Hereditary breast ovarian cancer syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 167892237.	NM_003579.4(RAD54L):c.1600C>T (p.Arg534Cys) GRCh37: Chr1:46739409 GRCh38: Chr1:46273737	RAD54L	R354C, R534C	Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167892638.	NM_003579.4(RAD54L):c.1611-71T>A GRCh37: Chr1:46739739 GRCh38: Chr1:46274067	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167892839.	NM_003579.4(RAD54L):c.1611-51del GRCh37: Chr1:46739752 GRCh38: Chr1:46274080	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167893040.	NM_003579.4(RAD54L):c.1611-56T>A GRCh37: Chr1:46739754 GRCh38: Chr1:46274082	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167893141.	NM_003579.4(RAD54L):c.1611-55T>A GRCh37: Chr1:46739755 GRCh38: Chr1:46274083	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167893242.	NM_003579.4(RAD54L):c.1615T>C (p.Leu539=) GRCh37: Chr1:46739814 GRCh38: Chr1:46274142	RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167893443.	NM_003579.4(RAD54L):c.1748T>C (p.Ile583Thr) GRCh37: Chr1:46740268 GRCh38: Chr1:46274596	RAD54L	I403T, I583T	Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177974044.	NM_003579.4(RAD54L):c.1769T>C (p.Met590Thr) GRCh37: Chr1:46740289 GRCh38: Chr1:46274617	RAD54L	M410T, M590T	Inborn genetic diseases, Familial cancer of breast	Uncertain significance (Jan 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167893745.	NM_003579.4(RAD54L):c.2026C>T (p.His676Tyr) GRCh37: Chr1:46743645 GRCh38: Chr1:46277973	LRRC41, RAD54L	H496Y, H676Y	Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Apr 19, 2022)	criteria provided, conflicting interpretations
Select item 167893846.	NM_003579.4(RAD54L):c.2034-6C>T GRCh37: Chr1:46743738 GRCh38: Chr1:46278066	LRRC41, RAD54L		Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167894047.	NM_003579.4(RAD54L):c.2063G>A (p.Arg688His) GRCh37: Chr1:46743773 GRCh38: Chr1:46278101	LRRC41, RAD54L	R508H, R688H	Hereditary breast ovarian cancer syndrome	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 167894348.	NM_003579.4(RAD54L):c.2190C>T (p.Ala730=) GRCh37: Chr1:46743900 GRCh38: Chr1:46278228	LRRC41, RAD54L		Inborn genetic diseases, Hereditary breast ovarian cancer syndrome	Benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167894449.	NM_003579.4(RAD54L):c.2197T>G (p.Phe733Val) GRCh37: Chr1:46743907 GRCh38: Chr1:46278235	LRRC41, RAD54L	F553V, F733V	Hereditary breast ovarian cancer syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 98185050.	NM_024408.4(NOTCH2):c.455C>T (p.Pro152Leu) GRCh37: Chr1:120539916 GRCh38: Chr1:119997293	NOTCH2	P152L	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 98185351.	NM_004284.6(CHD1L):c.1256T>C (p.Leu419Pro) GRCh37: Chr1:146743928 GRCh38: Chr1:147272267	CHD1L	L138P, L215P, L256P, L267P, L306P, L319P, L347P, L419P	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 78026752.	NM_004833.3(AIM2):c.1030T>G (p.Ter344Glu) GRCh37: Chr1:159032484 GRCh38: Chr1:159062694	AIM2		not provided, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Aug 1, 2020)	criteria provided, conflicting interpretations
Select item 84630453.	NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) GRCh37: Chr1:193099337 GRCh38: Chr1:193130207	CDC73	R91*	Familial cancer of breast, Hyperparathyroidism 1, Parathyroid carcinoma	Pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98183954.	NM_130398.4(EXO1):c.820G>A (p.Gly274Arg) GRCh37: Chr1:242023882 GRCh38: Chr1:241860580	EXO1	G274R	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 98181255.	NM_016252.4(BIRC6):c.9838C>T (p.Leu3280Phe) GRCh37: Chr2:32733184 GRCh38: Chr2:32508117	BIRC6	L3279F, L3280F	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 83029556.	NM_002354.3(EPCAM):c.250C>T (p.Pro84Ser) GRCh37: Chr2:47601012 GRCh38: Chr2:47373873	EPCAM	P84S	Hereditary breast ovarian cancer syndrome	Uncertain significance (May 1, 2019)	criteria provided, single submitter
Select item 83029657.	NM_002354.3(EPCAM):c.388G>T (p.Asp130Tyr) GRCh37: Chr2:47601150 GRCh38: Chr2:47374011	EPCAM	D130Y	Hereditary breast ovarian cancer syndrome	Uncertain significance (May 1, 2019)	criteria provided, single submitter
Select item 83029758.	NM_002354.3(EPCAM):c.635T>G (p.Val212Gly) GRCh37: Chr2:47606171 GRCh38: Chr2:47379032	EPCAM	V212G	Hereditary breast ovarian cancer syndrome	Uncertain significance (May 1, 2019)	criteria provided, single submitter
Select item 9068259.	NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) GRCh37: Chr2:47630344 GRCh38: Chr2:47403205	MSH2	P5Q	not specified, Hereditary breast ovarian cancer syndrome, Ovarian cancer, not provided, Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Feb 6, 2023)	criteria provided, conflicting interpretations
Select item 18529760.	NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) GRCh37: Chr2:47630410 GRCh38: Chr2:47403271	MSH2	P27L	Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary breast ovarian cancer syndrome, Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Lynch syndrome	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 9056061.	NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) GRCh37: Chr2:47630448 GRCh38: Chr2:47403309	MSH2	G40S	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, Hereditary breast ovarian cancer syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 23240662.	NM_000251.3(MSH2):c.266T>C (p.Val89Ala) GRCh37: Chr2:47635594 GRCh38: Chr2:47408455	MSH2	V89A, V23A	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not specified, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 48994363.	NM_000251.3(MSH2):c.286C>T (p.Arg96Cys) GRCh37: Chr2:47635614 GRCh38: Chr2:47408475	MSH2	R96C, R30C	Breast-ovarian cancer, familial, susceptibility to, 1, not specified, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 83030364.	NM_000251.3(MSH2):c.448G>T (p.Val150Phe) GRCh37: Chr2:47637314 GRCh38: Chr2:47410175	MSH2	V150F, V84F	Hereditary cancer-predisposing syndrome, not specified, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Aug 2, 2022)	criteria provided, conflicting interpretations
Select item 9111565.	NM_000251.3(MSH2):c.505A>G (p.Ile169Val) GRCh37: Chr2:47637371 GRCh38: Chr2:47410232	MSH2	I169V, I103V	Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 168463366.	NM_000251.3(MSH2):c.1077-1865_1276+742del GRCh37: Chr2:47655013-47657819 GRCh38: Chr2:47427874-47430680	MSH2		Endometrial carcinoma, Turcot syndrome, Lynch syndrome 5, Lynch syndrome 1, Familial cancer of breast	Pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 9058367.	NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) GRCh37: Chr2:47657059 GRCh38: Chr2:47429920	MSH2	Q419K, Q353K	Lynch syndrome	Likely benign (Sep 5, 2013)	reviewed by expert panel
Select item 42235168.	NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala) GRCh37: Chr2:47672725 GRCh38: Chr2:47445586	MSH2	P439A, P373A	Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 83030469.	NM_000251.3(MSH2):c.1501A>G (p.Arg501Gly) GRCh37: Chr2:47690284 GRCh38: Chr2:47463145	MSH2	R435G, R501G	Hereditary nonpolyposis colorectal neoplasms, Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23737270.	NM_000251.3(MSH2):c.1638G>C (p.Lys546Asn) GRCh37: Chr2:47693924 GRCh38: Chr2:47466785	MSH2	K546N, K480N	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14266571.	NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser) GRCh37: Chr2:47702250 GRCh38: Chr2:47475111	MSH2	P616S, P550S	Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Sep 8, 2022)	criteria provided, conflicting interpretations
Select item 9087572.	NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) GRCh37: Chr2:47703564 GRCh38: Chr2:47476425	MSH2	M688I, M622I	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided, not specified, Lynch syndrome 1	Conflicting interpretations of pathogenicity (Feb 6, 2023)	criteria provided, conflicting interpretations
Select item 64461973.	NM_000251.3(MSH2):c.2209A>G (p.Arg737Gly) GRCh37: Chr2:47703709 GRCh38: Chr2:47476570	MSH2	R737G, R671G	Hereditary breast ovarian cancer syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 45556274.	NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala) GRCh37: Chr2:47705607 GRCh38: Chr2:47478468	MSH2	T803A, T737A	not specified, Hereditary nonpolyposis colorectal neoplasms, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4164875.	NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) GRCh37: Chr2:47705625 GRCh38: Chr2:47478486	MSH2	E809K, E743K	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 9099576.	NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) GRCh37: Chr2:47707909 GRCh38: Chr2:47480770	MSH2	K845E, K779E	Hereditary cancer-predisposing syndrome, not specified, Hereditary breast ovarian cancer syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Lynch syndrome 1	Conflicting interpretations of pathogenicity (Sep 8, 2022)	criteria provided, conflicting interpretations
Select item 47987677.	NM_000179.3(MSH6):c.230G>A (p.Arg77Gln) GRCh37: Chr2:48010602 GRCh38: Chr2:47783463	MSH6	R77Q	Hereditary nonpolyposis colorectal neoplasms, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22022078.	NM_000179.3(MSH6):c.233G>A (p.Arg78Lys) GRCh37: Chr2:48010605 GRCh38: Chr2:47783466	MSH6	R78K	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 5, not specified, Hereditary breast ovarian cancer syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18265679.	NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) GRCh37: Chr2:48023107 GRCh38: Chr2:47795968	MSH6	R178C	Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome 5, not specified	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 18261180.	NM_000179.3(MSH6):c.728G>A (p.Arg243His) GRCh37: Chr2:48025850 GRCh38: Chr2:47798711	MSH6	R243H, R113H	Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome	Conflicting interpretations of pathogenicity (Mar 7, 2023)	criteria provided, conflicting interpretations
Select item 83025181.	NM_000179.3(MSH6):c.1072G>A (p.Asp358Asn) GRCh37: Chr2:48026194 GRCh38: Chr2:47799055	MSH6	D228N, D358N, D56N	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome	Uncertain significance (Dec 8, 2020)	criteria provided, multiple submitters, no conflicts
Select item 83025282.	NM_000179.3(MSH6):c.1138G>A (p.Asp380Asn) GRCh37: Chr2:48026260 GRCh38: Chr2:47799121	MSH6	D250N, D380N, D78N	Hereditary breast ovarian cancer syndrome, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18262083.	NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) GRCh37: Chr2:48026312 GRCh38: Chr2:47799173	MSH6	Y397C, Y267C, Y95C	Hereditary nonpolyposis colorectal neoplasms, not provided, Hereditary breast ovarian cancer syndrome, Lynch syndrome 5, Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Endometrial carcinoma, Lynch syndrome 5, not specified, Lynch syndrome	Conflicting interpretations of pathogenicity (Dec 27, 2022)	criteria provided, conflicting interpretations
Select item 41049884.	NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys) GRCh37: Chr2:48026782 GRCh38: Chr2:47799643	MSH6	R554C, R252C, R424C	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 14143085.	NM_000179.3(MSH6):c.2226C>G (p.Asn742Lys) GRCh37: Chr2:48027348 GRCh38: Chr2:47800209	MSH6	N742K, N612K, N440K	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82102486.	NM_000179.3(MSH6):c.2297A>T (p.His766Leu) GRCh37: Chr2:48027419 GRCh38: Chr2:47800280	MSH6	H464L, H636L, H766L	Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (May 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 82147187.	NM_000179.3(MSH6):c.2549A>C (p.Tyr850Ser) GRCh37: Chr2:48027671 GRCh38: Chr2:47800532	MSH6	Y850S, Y720S, Y548S	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome	Uncertain significance (May 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 47994788.	NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr) GRCh37: Chr2:48028007 GRCh38: Chr2:47800868	MSH6	I962T, I832T, I660T	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome	Uncertain significance (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82298189.	NM_000179.3(MSH6):c.3143A>G (p.Gln1048Arg) GRCh37: Chr2:48028265 GRCh38: Chr2:47801126	MSH6	Q918R, Q1048R, Q746R	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13583990.	NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) GRCh37: Chr2:48028273 GRCh38: Chr2:47801134	MSH6	V1051I, V749I, V921I	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided, not specified, Hereditary breast ovarian cancer syndrome, Lynch syndrome 5	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 149357691.	NM_000179.3(MSH6):c.3646+5G>A GRCh37: Chr2:48032851 GRCh38: Chr2:47805712	MSH6		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Familial cancer of breast	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14192492.	NM_000179.3(MSH6):c.3689C>G (p.Ala1230Gly) GRCh37: Chr2:48033385 GRCh38: Chr2:47806246	MSH6	A1230G, A1100G, A928G	Hereditary nonpolyposis colorectal neoplasms, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Sep 30, 2022)	criteria provided, conflicting interpretations
Select item 87064893.	NM_000179.3(MSH6):c.3974A>C (p.Lys1325Thr) GRCh37: Chr2:48033763 GRCh38: Chr2:47806624	MSH6	K1325T, K1195T, K1023T	Breast-ovarian cancer, familial, susceptibility to, 1, Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8950094.	NM_000179.3(MSH6):c.4001+2TAAC[2] GRCh37: Chr2:48033792-48033795 GRCh38: Chr2:47806653-47806656	MSH6		Lynch syndrome	Likely benign (Jun 21, 2019)	reviewed by expert panel
Select item 98183895.	NM_001282597.3(CTNNA2):c.103-1G>A GRCh37: Chr2:79971512 GRCh38: Chr2:79744386	CTNNA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 243191596.	NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter) GRCh37: Chr2:179505328 GRCh38: Chr2:178640601	TTN	E10987, E11914, E13555, E4490, E4615, E4682	Familial cancer of breast	Likely pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 13504697.	NM_000534.5(PMS1):c.605G>A (p.Arg202Lys) GRCh37: Chr2:190708712 GRCh38: Chr2:189843986	PMS1	R202K, R141K, R26K	Hereditary breast ovarian cancer syndrome	Likely benign (May 3, 2020)	criteria provided, single submitter
Select item 98185598.	NM_000534.5(PMS1):c.1039G>A (p.Glu347Lys) GRCh37: Chr2:190719037 GRCh38: Chr2:189854311	PMS1	E171K, E286K, E308K, E347K	Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 1, 2020)	criteria provided, single submitter
Select item 13505599.	NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys) GRCh37: Chr2:190719607 GRCh38: Chr2:189854881	PMS1	E537K, E361K, E476K, E498K	not specified, Hereditary breast ovarian cancer syndrome	Likely benign (Jul 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 333498100.	NM_001372051.1(CASP8):c.339C>T (p.Ser113=) GRCh37: Chr2:202136272 GRCh38: Chr2:201271549	CASP8		Autoimmune lymphoproliferative syndrome type 2B, Familial cancer of breast, Lung cancer, Hepatocellular carcinoma, Autoimmune lymphoproliferative syndrome type 2B	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts

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