ClinVar for MedGen (Select 651) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25813321.	NC_000002.11:g.(?_215590369)_(215617280_215632205)del GRCh37: Chr2:215590369-215632205	BARD1		Malignant tumor of breast	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25812702.	NM_000051.4(ATM):c.1503_1521del (p.Gln501fs) GRCh37: Chr11:108121694-108121712 GRCh38: Chr11:108250967-108250985	ATM	Q501fs	Malignant tumor of breast	Pathogenic (Aug 21, 2023)	criteria provided, single submitter
Select item 25772863.	NM_000051.4(ATM):c.1450_1451del (p.Trp484fs) GRCh37: Chr11:108121642-108121643 GRCh38: Chr11:108250915-108250916	ATM	W484fs	Malignant tumor of breast	Pathogenic (Jul 14, 2023)	criteria provided, single submitter
Select item 25770404.	NC_000016.9:g.(68771367_68772199)_(68772315_68835572)del GRCh37: Chr16:68771367-68835572	CDH1		Malignant tumor of breast	Pathogenic (Jul 13, 2023)	criteria provided, single submitter
Select item 25054795.	NM_000314.8(PTEN):c.128A>G (p.Glu43Gly) GRCh37: Chr10:89653830 GRCh38: Chr10:87894073	PTEN	E216G, E43G	Malignant tumor of breast	Uncertain significance (Jun 15, 2023)	criteria provided, single submitter
Select item 25034866.	NM_000546.6(TP53):c.839_842dup (p.Asp281fs) GRCh37: Chr17:7577095-7577096 GRCh38: Chr17:7673777-7673778	TP53	D122fs, D149fs, D242fs, D281fs	Malignant tumor of breast	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 25012527.	NM_024675.4(PALB2):c.2832_2834+4del GRCh37: Chr16:23635326-23635332 GRCh38: Chr16:23624005-23624011	PALB2		Malignant tumor of breast	Likely pathogenic (Mar 30, 2023)	criteria provided, single submitter
Select item 24459368.	NM_000051.4(ATM):c.2910_2921+10del GRCh37: Chr11:108141861-108141882 GRCh38: Chr11:108271134-108271155	ATM		Malignant tumor of breast	Likely pathogenic (Feb 21, 2023)	criteria provided, single submitter
Select item 21333179.	NM_005732.4(RAD50):c.656A>G (p.Lys219Arg) GRCh37: Chr5:131915658 GRCh38: Chr5:132579966	RAD50	K219R	Hereditary cancer-predisposing syndrome, Malignant tumor of breast	Uncertain significance (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 187833410.	NM_000051.4(ATM):c.2091del (p.Leu697fs) GRCh37: Chr11:108124733 GRCh38: Chr11:108254006	ATM	L697fs	Familial cancer of breast, Malignant tumor of breast	Pathogenic/Likely pathogenic (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 179963311.	NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln) GRCh37: Chr4:84383746 GRCh38: Chr4:83462593	ABRAXAS1	R260Q, R369Q	Malignant tumor of breast, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172338112.	NM_032043.3(BRIP1):c.2487del (p.Gly830fs) GRCh37: Chr17:59793317 GRCh38: Chr17:61715956	BRIP1	G830fs	Malignant tumor of breast	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 170524313.	NC_000016.9:g.(?_23614482)_(23619334_23625324)del GRCh37: Chr16:23614482-23625324	PALB2		Malignant tumor of breast	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 170517514.	NC_000016.9:g.(?_23614482)_(23614991_23619184)del GRCh37: Chr16:23614482-23619184	PALB2		Malignant tumor of breast	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 169867115.	NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del GRCh37: Chr16:23635363-23637556	PALB2		Malignant tumor of breast	Likely pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 134350016.	NM_000051.4(ATM):c.845T>G (p.Leu282Ter) GRCh37: Chr11:108115697 GRCh38: Chr11:108244970	ATM	L282*	Malignant tumor of breast	Likely pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 134349017.	NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del GRCh37: Chr11:108168110-108180886	ATM		Malignant tumor of breast	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 130187818.	NM_000372.5(TYR):c.[1205G>A;575C>A] GRCh37: Chr11:88911696 Chr11:89017961 GRCh38: Chr11:89178528 Chr11:89284793	TYR, TYR	S192Y, R402Q	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B	Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 121729019.	NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del GRCh37: Chr17:59934593-59940644	BRIP1		Malignant tumor of breast	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 121726820.	NC_000011.9:g.(108225602_108235808)_(108239827_?)del GRCh37: Chr11:108225602-108239827	ATM		Malignant tumor of breast	Pathogenic (Aug 23, 2021)	criteria provided, single submitter
Select item 121723921.	NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del GRCh37: Chr16:23619334-23632682	PALB2		Malignant tumor of breast	Pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 119225022.	NC_000016.9:g.(?_23614482)_(23637719_23640524)del GRCh37: Chr16:23614482-23640524	PALB2		Malignant tumor of breast	Pathogenic (Jul 15, 2021)	criteria provided, single submitter
Select item 117751623.	GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1 GRCh37: Chr11:108235811-108239828	ATM		Ataxia-telangiectasia syndrome, Malignant tumor of breast	not provided	no assertion provided
Select item 117459724.	NM_000059.4(BRCA2):c.3292A>T (p.Asn1098Tyr) GRCh37: Chr13:32911784 GRCh38: Chr13:32337647	BRCA2	N1098Y	Hereditary cancer-predisposing syndrome	Likely benign (Mar 23, 2023)	criteria provided, single submitter
Select item 117287925.	NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs) GRCh37: Chr16:23614812-23614818 GRCh38: Chr16:23603491-23603497	PALB2	Q1175fs	Malignant tumor of breast	Likely pathogenic (Jun 2, 2021)	criteria provided, single submitter
Select item 105077626.	NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs) GRCh37: Chr17:41244322-41244323 GRCh38: Chr17:43092305-43092306	LOC126862571, BRCA1	N1028fs, N1075fs, N1074fs, N907fs, N963fs, N986fs, N987fs, N1005fs, N1007fs, N1008fs, N1033fs, N1049fs, N948fs, N964fs, N1027fs, N1004fs, N1034fs, N1048fs, N1072fs, N779fs, N947fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105077127.	NM_002485.5(NBN):c.1264G>T (p.Ala422Ser) GRCh37: Chr8:90967644 GRCh38: Chr8:89955416	NBN	A340S, A422S	Microcephaly, normal intelligence and immunodeficiency	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 105074428.	NM_000051.4(ATM):c.748C>A (p.Arg250=) GRCh37: Chr11:108115600 GRCh38: Chr11:108244873	ATM		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105073529.	NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter) GRCh37: Chr13:32931987 GRCh38: Chr13:32357850	BRCA2	G2576*	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105069830.	NM_004360.5(CDH1):c.900C>G (p.Ile300Met) GRCh37: Chr16:68845654 GRCh38: Chr16:68811751	CDH1	I300M	Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105067131.	NM_007294.4(BRCA1):c.3476del (p.Ile1159fs) GRCh37: Chr17:41244072 GRCh38: Chr17:43092055	BRCA1, LOC126862571	I1112fs, I1159fs, I1031fs, I1032fs, I1089fs, I1091fs, I1111fs, I1133fs, I1156fs, I991fs, I1048fs, I1070fs, I1117fs, I1158fs, I863fs, I1047fs, I1071fs, I1088fs, I1092fs, I1118fs, I1132fs, I291fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105066932.	NM_000059.4(BRCA2):c.1910-1G>A GRCh37: Chr13:32910401 GRCh38: Chr13:32336264	BRCA2		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105065533.	NM_000059.4(BRCA2):c.7966C>G (p.Leu2656Val) GRCh37: Chr13:32936820 GRCh38: Chr13:32362683	BRCA2	L2656V	Hereditary cancer-predisposing syndrome	Uncertain significance (May 29, 2020)	criteria provided, single submitter
Select item 105065334.	NM_000059.4(BRCA2):c.5334T>A (p.Asn1778Lys) GRCh37: Chr13:32913826 GRCh38: Chr13:32339689	BRCA2	N1778K	Hereditary cancer-predisposing syndrome	Likely benign (Mar 23, 2023)	criteria provided, single submitter
Select item 105064435.	NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn) GRCh37: Chr22:29099505 GRCh38: Chr22:28703517	CHEK2	I232N, I299N, I342N, I78N	Hereditary cancer-predisposing syndrome, Familial cancer of breast	Uncertain significance (Sep 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105063936.	NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs) GRCh37: Chr13:32914084-32914085 GRCh38: Chr13:32339947-32339948	BRCA2	I1865fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105057037.	NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro) GRCh37: Chr13:32912513 GRCh38: Chr13:32338376	BRCA2	S1341P	Hereditary cancer-predisposing syndrome	Likely benign (Mar 23, 2023)	criteria provided, single submitter
Select item 105055338.	NM_000059.4(BRCA2):c.8827del (p.Gln2943fs) GRCh37: Chr13:32953526 GRCh38: Chr13:32379389	BRCA2	Q2943fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105054439.	NM_000535.7(PMS2):c.989-85_1144+3del GRCh37: Chr7:6029428-6029671 GRCh38: Chr7:5989797-5990040	PMS2		Malignant tumor of breast	Likely pathogenic	no assertion criteria provided
Select item 105054240.	NM_000059.4(BRCA2):c.1110A>G (p.Val370=) GRCh37: Chr13:32906725 GRCh38: Chr13:32332588	BRCA2		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105052641.	NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala) GRCh37: Chr13:32912415 GRCh38: Chr13:32338278	BRCA2	E1308A	Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 105046242.	NM_006231.4(POLE):c.6028T>C (p.Cys2010Arg) GRCh37: Chr12:133209358 GRCh38: Chr12:132632772	POLE	C2010R	Colorectal cancer, susceptibility to, 12	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 105045443.	NM_000179.3(MSH6):c.1277G>A (p.Cys426Tyr) GRCh37: Chr2:48026399 GRCh38: Chr2:47799260	MSH6	C124Y, C296Y, C426Y	Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 105045244.	NM_000179.3(MSH6):c.-11C>A GRCh37: Chr2:48010362 GRCh38: Chr2:47783223	MSH6		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105042945.	NM_000251.3(MSH2):c.2147A>G (p.Asp716Gly) GRCh37: Chr2:47703647 GRCh38: Chr2:47476508	MSH2	D650G, D716G	Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 105042346.	NM_000051.4(ATM):c.3746+12C>A GRCh37: Chr11:108153618 GRCh38: Chr11:108282891	ATM		Ataxia-telangiectasia syndrome	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 105037147.	NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter) GRCh37: Chr17:41246839 GRCh38: Chr17:43094822	BRCA1	E190, E237, E126, E148, E149, E192, E234, E236, E69, E125, E166, E169, E211, E109, E170, E189, E210, E110, E167, E195, E196*	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105036048.	NM_000059.4(BRCA2):c.7308C>T (p.Asn2436=) GRCh37: Chr13:32929298 GRCh38: Chr13:32355161	BRCA2		Hereditary breast ovarian cancer syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 105035949.	NM_000546.6(TP53):c.731del (p.Gly244fs) GRCh37: Chr17:7577550 GRCh38: Chr17:7674232	TP53	G112fs, G205fs, G244fs, G85fs	Li-Fraumeni syndrome	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 105031750.	NM_000465.4(BARD1):c.1904-12T>G GRCh37: Chr2:215595244 GRCh38: Chr2:214730520	BARD1		not provided, Familial cancer of breast	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 105031051.	NM_024675.4(PALB2):c.2575del (p.Ser859fs) GRCh37: Chr16:23640536 GRCh38: Chr16:23629215	PALB2	S859fs	Familial cancer of breast, Hereditary cancer-predisposing syndrome	Pathogenic (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105030152.	NM_007294.4(BRCA1):c.3563G>T (p.Arg1188Met) GRCh37: Chr17:41243985 GRCh38: Chr17:43091968	BRCA1, LOC126862571	R1141M, R1188M, R1076M, R1099M, R1100M, R1020M, R1061M, R1077M, R1147M, R1162M, R1187M, R892M, R1060M, R1121M, R1140M, R1146M, R1185M, R1117M, R1118M, R1120M, R1161M, R320M	Hereditary cancer-predisposing syndrome	Likely benign (Mar 23, 2023)	criteria provided, single submitter
Select item 105029853.	NM_002878.4(RAD51D):c.576+6C>G GRCh37: Chr17:33433399 GRCh38: Chr17:35106380	RAD51L3-RFFL, RAD51D		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105029754.	NM_032043.3(BRIP1):c.613T>G (p.Phe205Val) GRCh37: Chr17:59924476 GRCh38: Chr17:61847115	BRIP1	F205V	Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 105029055.	NM_000465.4(BARD1):c.111T>A (p.Ser37Arg) GRCh37: Chr2:215674183 GRCh38: Chr2:214809459	BARD1	S37R	Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105028556.	NM_000251.3(MSH2):c.2165T>C (p.Val722Ala) GRCh37: Chr2:47703665 GRCh38: Chr2:47476526	MSH2	V656A, V722A	Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 18, 2019)	criteria provided, single submitter
Select item 105028057.	NM_004360.5(CDH1):c.2440-2_*1del GRCh37: Chr16:68867191-68867403 GRCh38: Chr16:68833288-68833500	CDH1		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105025358.	NM_007294.4(BRCA1):c.4987-1331_5152+2del GRCh37: Chr17:41215889-41221043 GRCh38: Chr17:43063872-43069026	BRCA1		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105025259.	NM_000179.3(MSH6):c.442T>C (p.Leu148=) GRCh37: Chr2:48018247 GRCh38: Chr2:47791108	MSH6		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105024860.	NM_007194.4(CHEK2):c.1324del (p.Ser442fs) GRCh37: Chr22:29091166 GRCh38: Chr22:28695178	CHEK2	S221fs, S375fs, S413fs, S442fs, S485fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105023761.	NM_007194.4(CHEK2):c.793-110_846+2del GRCh37: Chr22:29105992-29106157 GRCh38: Chr22:28710004-28710169	CHEK2		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105022362.	NM_000465.4(BARD1):c.1569-1_1677+2del GRCh37: Chr2:215617169-215617280 GRCh38: Chr2:214752445-214752556	BARD1		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105021863.	NM_000465.4(BARD1):c.175G>C (p.Glu59Gln) GRCh37: Chr2:215661825 GRCh38: Chr2:214797101	BARD1	E59Q	Familial cancer of breast, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105020264.	NM_000059.4(BRCA2):c.32T>G (p.Phe11Cys) GRCh37: Chr13:32890629 GRCh38: Chr13:32316492	BRCA2	F11C	Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105018465.	NM_006231.4(POLE):c.605C>T (p.Thr202Ile) GRCh37: Chr12:133254279 GRCh38: Chr12:132677693	POLE	T202I	Colorectal cancer, susceptibility to, 12	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 105014566.	NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer) GRCh37: Chr17:41276047-41276048 GRCh38: Chr17:43124030-43124031	BRCA1		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105014067.	NM_007294.4(BRCA1):c.2649A>C (p.Ala883=) GRCh37: Chr17:41244899 GRCh38: Chr17:43092882	BRCA1		Hereditary breast ovarian cancer syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 105013668.	NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter) GRCh37: Chr7:6017254 GRCh38: Chr7:5977623	PMS2	K493, K613, K617, K669, K680, K698, K701, K752, K804, K815	Malignant tumor of breast	Likely pathogenic	no assertion criteria provided
Select item 105004969.	NM_000249.4(MLH1):c.772T>C (p.Phe258Leu) GRCh37: Chr3:37056017 GRCh38: Chr3:37014526	MLH1	F160L, F17L, F225L, F258L	Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105003770.	NM_000059.4(BRCA2):c.7008-1_7435+372del GRCh37: Chr13:32928995-32929795 GRCh38: Chr13:32354858-32355658	BRCA2		Malignant tumor of breast	Likely pathogenic	no assertion criteria provided
Select item 105002671.	NM_007294.4(BRCA1):c.5194-119_5277+3del GRCh37: Chr17:41209066-41209271 GRCh38: Chr17:43057049-43057254	BRCA1		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 105001372.	NM_024675.4(PALB2):c.3031G>A (p.Glu1011Lys) GRCh37: Chr16:23632765 GRCh38: Chr16:23621444	PALB2	E1011K	Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 105000873.	NM_000136.3(FANCC):c.997-9C>G GRCh37: Chr9:97879681 GRCh38: Chr9:95117399	FANCC, AOPEP		not provided	Likely benign (Nov 6, 2018)	criteria provided, single submitter
Select item 104995974.	NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln) GRCh37: Chr13:32906915 GRCh38: Chr13:32332778	BRCA2	K434Q	Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 104995075.	NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val) GRCh37: Chr13:32950842 GRCh38: Chr13:32376705	BRCA2	L2890V	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, not provided	Uncertain significance (Jun 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 104994076.	NM_000051.4(ATM):c.3403-1_3577-680del GRCh37: Chr11:108151720-108152756 GRCh38: Chr11:108280993-108282029	ATM		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104991277.	NM_007294.4(BRCA1):c.5194-836_5277+3del GRCh37: Chr17:41209066-41209988 GRCh38: Chr17:43057049-43057971	BRCA1		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104989578.	NM_007294.4(BRCA1):c.2365del (p.Ser789fs) GRCh37: Chr17:41245183 GRCh38: Chr17:43093166	BRCA1	S742fs, S789fs, S678fs, S700fs, S722fs, S741fs, S748fs, S762fs, S786fs, S788fs, S719fs, S747fs, S763fs, S493fs, S621fs, S661fs, S662fs, S677fs, S701fs, S718fs, S721fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104986179.	NM_000251.3(MSH2):c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr) GRCh37: Chr2:47703564-47703565 GRCh38: Chr2:47476425-47476426	MSH2		Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 104982880.	NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs) GRCh37: Chr17:41245687-41245700 GRCh38: Chr17:43093670-43093683	BRCA1	T570fs, T617fs, T321fs, T449fs, T575fs, T614fs, T489fs, T528fs, T529fs, T547fs, T569fs, T591fs, T546fs, T549fs, T616fs, T490fs, T505fs, T506fs, T550fs, T576fs, T590fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104978381.	NM_000535.7(PMS2):c.1785A>G (p.Val595=) GRCh37: Chr7:6026611 GRCh38: Chr7:5986980	PMS2		Hereditary cancer-predisposing syndrome	Likely benign (Jan 7, 2020)	criteria provided, single submitter
Select item 104977882.	NM_000038.6(APC):c.-2_135+1824del GRCh37: Chr5:112090586-112092546 GRCh38: Chr5:112754889-112756849	APC		Malignant tumor of breast, Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104976683.	NM_000251.3(MSH2):c.836T>C (p.Leu279Pro) GRCh37: Chr2:47641451 GRCh38: Chr2:47414312	MSH2	L213P, L279P	Hereditary nonpolyposis colorectal neoplasms	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 104975584.	NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs) GRCh37: Chr22:29085185-29085189 GRCh38: Chr22:28689197-28689201	CHEK2	R272fs, R426fs, R464fs, R493fs, R536fs	Malignant tumor of breast	Likely pathogenic	no assertion criteria provided
Select item 104973885.	NM_000136.3(FANCC):c.1155-14T>G GRCh37: Chr9:97873933 GRCh38: Chr9:95111651	AOPEP, FANCC		Fanconi anemia	Likely benign (Jul 10, 2021)	criteria provided, single submitter
Select item 104971986.	NM_007294.4(BRCA1):c.851del (p.Gln284fs) GRCh37: Chr17:41246697 GRCh38: Chr17:43094680	BRCA1	Q237fs, Q284fs, Q116fs, Q172fs, Q242fs, Q257fs, Q281fs, Q283fs, Q156fs, Q195fs, Q214fs, Q236fs, Q243fs, Q157fs, Q213fs, Q216fs, Q217fs, Q173fs, Q196fs, Q258fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104965587.	NM_000465.4(BARD1):c.1904-502_*2del GRCh37: Chr2:215593398-215595734 GRCh38: Chr2:214728674-214731010	BARD1		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104965288.	NM_004360.5(CDH1):c.1437T>C (p.Asp479=) GRCh37: Chr16:68849534 GRCh38: Chr16:68815631	CDH1		Malignant tumor of breast	Likely benign	no assertion criteria provided
Select item 104960389.	NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG GRCh37: Chr2:215595242-215595244 GRCh38: Chr2:214730518-214730520	BARD1		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 104960290.	NM_000059.4(BRCA2):c.4764C>T (p.Ala1588=) GRCh37: Chr13:32913256 GRCh38: Chr13:32339119	BRCA2		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 104959891.	NM_000179.3(MSH6):c.1752T>C (p.Thr584=) GRCh37: Chr2:48026874 GRCh38: Chr2:47799735	MSH6		Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 104958192.	NM_000136.3(FANCC):c.166-165_250+3del GRCh37: Chr9:98009711-98009963 GRCh38: Chr9:95247429-95247681	FANCC		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104957793.	NM_007294.4(BRCA1):c.3635C>T (p.Ser1212Leu) GRCh37: Chr17:41243913 GRCh38: Chr17:43091896	BRCA1, LOC126862571	S1165L, S1212L, S1085L, S1100L, S1141L, S1142L, S1144L, S1084L, S1101L, S1170L, S1124L, S1171L, S1211L, S344L, S1044L, S1123L, S1145L, S1164L, S1185L, S1186L, S1209L, S916L	Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 104957694.	NM_007294.4(BRCA1):c.5194-1_5277+2del GRCh37: Chr17:41209067-41209153 GRCh38: Chr17:43057050-43057136	BRCA1		Carcinoma of colon, Malignant tumor of breast, Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic	no assertion criteria provided
Select item 104956995.	NM_007294.4(BRCA1):c.901A>C (p.Lys301Gln) GRCh37: Chr17:41246647 GRCh38: Chr17:43094630	BRCA1	K254Q, K301Q, K173Q, K190Q, K233Q, K259Q, K274Q, K5Q, K133Q, K213Q, K300Q, K174Q, K189Q, K230Q, K253Q, K260Q, K275Q, K212Q, K231Q, K234Q, K298Q	Hereditary cancer-predisposing syndrome	Likely benign (Mar 23, 2023)	criteria provided, single submitter
Select item 104956796.	NM_007294.4(BRCA1):c.2_80+4del GRCh37: Chr17:41276030-41276112 GRCh38: Chr17:43124013-43124095	BRCA1		Breast-ovarian cancer, familial, susceptibility to, 1, Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104956697.	NM_000059.4(BRCA2):c.3119del (p.Thr1040fs) GRCh37: Chr13:32911611 GRCh38: Chr13:32337474	BRCA2	T1040fs	Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104955898.	NM_000051.4(ATM):c.3754T>C (p.Tyr1252His) GRCh37: Chr11:108154961 GRCh38: Chr11:108284234	ATM	Y1252H	Malignant tumor of breast	Uncertain significance	no assertion criteria provided
Select item 104953299.	NM_002485.5(NBN):c.481-11C>T GRCh37: Chr8:90990562 GRCh38: Chr8:89978334	NBN		Microcephaly, normal intelligence and immunodeficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 1049526100.	NM_000251.3(MSH2):c.2516A>C (p.His839Pro) GRCh37: Chr2:47707892 GRCh38: Chr2:47480753	MSH2	H773P, H839P	Malignant tumor of breast	Uncertain significance	no assertion criteria provided

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