| - GRCh37:
- Chr14:75516227
- GRCh38:
- Chr14:75049524
| MLH3 | R44S | Endometrial carcinoma | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:27106823-27106825
- GRCh38:
- Chr1:26780332-26780334
| ARID1A | K1929del, K2146del | Endometrial carcinoma | association | no assertion criteria provided |
| - GRCh37:
- Chr2:48026005
- GRCh38:
- Chr2:47798866
| MSH6 | K120*, K165*, K196*, K239*, K269*, K295*, K297*, K327* | Endometrial carcinoma | Pathogenic
(Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91341462-91341463
- GRCh38:
- Chr15:90798232-90798233
| BLM | R1086fs, R711fs | Familial cancer of breast, Endometrial carcinoma, Colorectal cancer
| Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:89692848
- GRCh38:
- Chr10:87933091
| PTEN | W284*, W111* | PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37070347-37070348
- GRCh38:
- Chr3:37028856-37028857
| MLH1 | T137fs, T154fs, T254fs, T397fs, T462fs, T495fs | Endometrial carcinoma | Pathogenic
(Feb 21, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:48026084-48026087
- GRCh38:
- Chr2:47798945-47798948
| MSH6 | A192fs, A20fs, A322fs | Endometrial carcinoma | Pathogenic
(Feb 21, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:48033784
- GRCh38:
- Chr2:47806645
| MSH6 | L1030*, L1044*, L1157*, L1202*, L1233*, L1274*, L1276*, L1306*, L1332*, L1334*, L1364*, L259*, L281*, L647*, L810* | Endometrial carcinoma | Pathogenic
(Feb 21, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:48032072-48032073
- GRCh38:
- Chr2:47804933-47804934
| MSH6 | V1030fs, V1160fs, V858fs | Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48026097-48026098
- GRCh38:
- Chr2:47798958-47798959
| MSH6 | A196fs, A24fs, A326fs | Endometrial carcinoma | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:75489683
- GRCh38:
- Chr14:75022980
| MLH3 | | not specified, Colorectal cancer, Endometrial carcinoma,
Colorectal cancer, hereditary nonpolyposis, type 7, Colorectal cancer, hereditary nonpolyposis, type 7 | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:75514359
- GRCh38:
- Chr14:75047656
| MLH3 | G667A | Hereditary cancer-predisposing syndrome, Endometrial carcinoma, Colorectal cancer, hereditary nonpolyposis, type 7,
Colorectal cancer, Colorectal cancer, hereditary nonpolyposis, type 7 | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:75500161
- GRCh38:
- Chr14:75033458
| MLH3 | A1226T | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 7, Endometrial carcinoma,
Colorectal cancer, MLH3-related condition, Colorectal cancer, hereditary nonpolyposis, type 7
| Uncertain significance
(Jul 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027113
- GRCh38:
- Chr2:47799974
| MSH6 | S362*, S534*, S664* | Hereditary cancer-predisposing syndrome, Endometrial carcinoma | Pathogenic/Likely pathogenic
(May 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027072-48027073
- GRCh38:
- Chr2:47799933-47799934
| MSH6 | G350fs, G522fs, G652fs | Lynch syndrome 5, Endometrial carcinoma | Likely pathogenic
(Feb 28, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:68849589
- GRCh38:
- Chr16:68815686
| CDH1 | D437N, D498N | not provided, Familial cancer of breast, Blepharocheilodontic syndrome 1,
Endometrial carcinoma, Hereditary diffuse gastric adenocarcinoma, Neoplasm of ovary,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
| Uncertain significance
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37081673-37081848
- GRCh38:
- Chr3:37040182-37040357
| MLH1 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6038946-6038947
- GRCh38:
- Chr7:5999315-5999316
| PMS2 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6031602-6031887
- GRCh38:
- Chr7:5991971-5992256
| PMS2 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6017215-6019662
- GRCh38:
- Chr7:5977584-5980031
| PMS2 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:23614904
- GRCh38:
- Chr16:23603583
| PALB2 | Q1146L | Familial cancer of breast, Hereditary cancer-predisposing syndrome, not provided
| Uncertain significance
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:37035028
- GRCh38:
- Chr3:36993537
| MLH1 | | Endometrial carcinoma | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:47637229-47638251
- GRCh38:
- Chr2:47410090-47411112
| MSH2 | | Endometrial carcinoma, Lynch syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6027208
- GRCh38:
- Chr7:5987577
| PMS2 | M205I, M209I, M261I, M290I, M293I, M344I, M396I, M85I | Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:6035163-6035531
- GRCh38:
- Chr7:5995532-5995900
| PMS2 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6013028-6015456
- GRCh38:
- Chr7:5973397-5975825
| PMS2 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:48033769-48033770
- GRCh38:
- Chr2:47806630-47806631
| MSH6 | N1025fs, N1197fs, N1327fs | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6013027-6013343
- GRCh38:
- Chr7:5973396-5973712
| PMS2 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:47656965-47656966
- GRCh38:
- Chr2:47429826-47429827
| MSH2 | N322fs, N388fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48033339-48033778
- GRCh38:
- Chr2:47806200-47806639
| MSH6 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6029429-6029587
- GRCh38:
- Chr7:5989798-5989956
| PMS2 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:37053354
- GRCh38:
- Chr3:37011863
| MLH1 | | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:48026080
- GRCh38:
- Chr2:47798941
| MSH6 | P18T, P190T, P320T | Hereditary cancer-predisposing syndrome | Uncertain significance
(Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:37038124-37038125
- GRCh38:
- Chr3:36996633-36996634
| MLH1 | S44F | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47637324
- GRCh38:
- Chr2:47410185
| MSH2 | A154fs, A88fs | Carcinoma of colon, Endometrial carcinoma, Lynch syndrome
| Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr5:79970801
- GRCh38:
- Chr5:80674982
| MSH3 | | not provided, Familial adenomatous polyposis 4, Endometrial carcinoma
| Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48030580-48030584
- GRCh38:
- Chr2:47803441-47803445
| MSH6 | N1065fs, N763fs, N935fs | not provided, Endometrial carcinoma | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:75516081
- GRCh38:
- Chr14:75049378
| MLH3 | R93Q | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 7, Endometrial carcinoma
| Uncertain significance
(Nov 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:80021389
- GRCh38:
- Chr5:80725570
| MSH3 | | Familial adenomatous polyposis 4, Endometrial carcinoma, Hereditary cancer-predisposing syndrome,
not provided | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48033423
- GRCh38:
- Chr2:47806284
| MSH6 | T1113A, T1243A, T941A | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Endometrial carcinoma
| Uncertain significance
(Aug 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48033497
- GRCh38:
- Chr2:47806358
| MSH6 | M1137I, M965I, M1267I | Hereditary cancer-predisposing syndrome | Uncertain significance
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48033619-48033620
- GRCh38:
- Chr2:47806480-47806481
| MSH6 | Q1280fs, Q1150fs, Q978fs | Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027794-48027795
- GRCh38:
- Chr2:47800655-47800656
| MSH6 | L591fs, L893fs, L763fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic/Likely pathogenic
(Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48026760
- GRCh38:
- Chr2:47799621
| MSH6 | E245fs, E417fs, E547fs | Hereditary cancer-predisposing syndrome, Endometrial carcinoma | Pathogenic/Likely pathogenic
(Feb 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48026305-48026306
- GRCh38:
- Chr2:47799166-47799167
| MSH6 | Y95fs, Y267fs, Y397fs | Endometrial carcinoma, Hereditary cancer-predisposing syndrome | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:80024783
- GRCh38:
- Chr5:80728964
| MSH3 | E523K | not specified, Familial adenomatous polyposis 4, Endometrial carcinoma,
Hereditary cancer-predisposing syndrome, not provided | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:80024662
- GRCh38:
- Chr5:80728843
| MSH3 | | Hereditary cancer-predisposing syndrome, not provided, Endometrial carcinoma,
Familial adenomatous polyposis 4 | Benign/Likely benign
(Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:75515486
- GRCh38:
- Chr14:75048783
| MLH3 | N291K | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 7, Colorectal cancer, hereditary nonpolyposis, type 7,
Endometrial carcinoma, Colorectal cancer | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:108143545
- GRCh38:
- Chr11:108272818
| ATM | Q1084* | Ataxia-telangiectasia syndrome | Pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:75515916
- GRCh38:
- Chr14:75049213
| MLH3 | V148A | Hereditary cancer-predisposing syndrome, Colorectal cancer, hereditary nonpolyposis, type 7, Endometrial carcinoma,
Colorectal cancer, hereditary nonpolyposis, type 7, Colorectal cancer | Uncertain significance
(Sep 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027806
- GRCh38:
- Chr2:47800667
| MSH6 | T593R, T765R, T895R | Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48033943-48033944
- GRCh38:
- Chr2:47806804-47806805
| MSH6 | | Endometrial carcinoma, Mismatch repair cancer syndrome 3, Lynch syndrome 5,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48026004-48026005
- GRCh38:
- Chr2:47798865-47798866
| MSH6 | V166fs, V296fs | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:80063871
- GRCh38:
- Chr5:80768052
| MSH3 | I672M | Hereditary cancer-predisposing syndrome, not provided, MSH3-related condition,
Endometrial carcinoma, Familial adenomatous polyposis 4 | Uncertain significance
(May 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:80074616
- GRCh38:
- Chr5:80778797
| MSH3 | L799R | Endometrial carcinoma, Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48032034
- GRCh38:
- Chr2:47804895
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:80063767-80063769
- GRCh38:
- Chr5:80767948-80767950
| MSH3 | F639del | Hereditary cancer-predisposing syndrome, not provided | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:68842695
- GRCh38:
- Chr16:68808792
| CDH1 | T211A | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Neoplasm of ovary,
Familial cancer of breast, Blepharocheilodontic syndrome 1, Endometrial carcinoma,
Malignant tumor of prostate, Hereditary diffuse gastric adenocarcinoma, not provided
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:75513721
- GRCh38:
- Chr14:75047018
| MLH3 | L880V | not provided, Colorectal cancer, hereditary nonpolyposis, type 7, Endometrial carcinoma,
Hereditary cancer-predisposing syndrome, not specified | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:68855933
- GRCh38:
- Chr16:68822030
| CDH1 | L581F, L65F, L520F | Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast,
Neoplasm of ovary, Malignant tumor of prostate, Blepharocheilodontic syndrome 1,
Endometrial carcinoma, Hereditary diffuse gastric adenocarcinoma | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:89720858
- GRCh38:
- Chr10:87961101
| PTEN | S338fs, S141fs, S511fs | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:29447680-42554394
| RASGRP3, HNRNPLL, SOS1-IT1, BIRC6, THUMPD2, GEMIN6, LCLAT1, ATL2, HEATR5B, CRIM1, CDC42EP3, LBH, LTBP1, MEMO1, SPAST, STRN, TMEM178A, ALK, CAPN14, VIT, GALNT14, GPATCH11, FEZ2, QPCT, PRKD3, TTC27, SLC30A6, LINC02898, MORN2, XDH, SOS1, CDKL4, YIPF4, SRSF7, MAP4K3, GALM, EML4, SULT6B1, EIF2AK2, FAM98A, EHD3, RMDN2, CEBPZ, PKDCC, NLRC4, YPEL5, SLC8A1, ARHGEF33, DPY30, CAPN13, NDUFAF7, SRD5A2, DHX57, CYP1B1 | | Endometrial carcinoma | Likely pathogenic
(May 7, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:48033959
- GRCh38:
- Chr2:47806820
| MSH6 | E1348A, E1218A, E1046A | not provided, Turcot syndrome, Endometrial carcinoma,
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48023164
- GRCh38:
- Chr2:47796025
| MSH6 | D197H | Endometrial carcinoma, Lynch syndrome 5, Mismatch repair cancer syndrome 3,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:79950724-79950725
- GRCh38:
- Chr5:80654905-80654906
| DHFR, MSH3 | | not specified, not provided, Hereditary cancer-predisposing syndrome
| Benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:2127606-2334390
- GRCh38:
- Chr16:2077605-2284389
| ABCA3, BRICD5, CASKIN1, LOC130058215, LOC130058216, LOC130058217, LOC130058218, E4F1, ECI1, ECI1-AS1, LOC112340386, LOC112340387, LOC129390754, DNASE1L2, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, MIR1225, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR6511B1, MIR940, MLST8, PGP, PKD1, PKD1-AS1, RAB26, RNPS1, SNHG19, SNORD60, TRAF7, TSC2 | | Endometrial carcinoma | Uncertain significance
(Jan 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:178952019
- GRCh38:
- Chr3:179234231
| PIK3CA | T1025S | Endometrial carcinoma | Likely pathogenic
(Jan 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr4:1737488-1808653
- GRCh38:
- Chr4:1735761-1806926
| LOC116158483, LOC129992009, LOC129992010, LOC129992011, LOC129992012, TACC3, FGFR3 | | Endometrial carcinoma | Likely pathogenic
(Jan 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:68847221
- GRCh38:
- Chr16:68813318
| CDH1 | G382fs | Familial cancer of breast, Neoplasm of ovary, Hereditary diffuse gastric adenocarcinoma,
Endometrial carcinoma, Blepharocheilodontic syndrome 1, Malignant tumor of prostate,
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic/Likely pathogenic
(Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48032740
- GRCh38:
- Chr2:47805601
| MSH6 | | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Endometrial carcinoma,
Lynch syndrome 5 | Likely benign
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48030637
- GRCh38:
- Chr2:47803498
| MSH6 | D1084G, D782G, D954G | Hereditary cancer-predisposing syndrome, MSH6-related condition, Lynch syndrome 5,
Mismatch repair cancer syndrome 3, Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms
| Uncertain significance
(Sep 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:68835788
- GRCh38:
- Chr16:68801885
| CDH1 | H128fs | CDH1-related diffuse gastric and lobular breast cancer syndrome | Pathogenic
(Aug 29, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr2:48030727
- GRCh38:
- Chr2:47803588
| MSH6 | L1114Q, L812Q, L984Q | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3,
Lynch syndrome 5, Endometrial carcinoma, not provided
| Uncertain significance
(Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47639648
- GRCh38:
- Chr2:47412509
| MSH2 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Likely benign
(Mar 17, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:68856035
- GRCh38:
- Chr16:68822132
| CDH1 | I615V, I554V, I99V | Neoplasm of ovary, Malignant tumor of prostate, Familial cancer of breast,
Blepharocheilodontic syndrome 1, Endometrial carcinoma, Hereditary diffuse gastric adenocarcinoma,
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome, not specified
| Uncertain significance
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010592
- GRCh38:
- Chr2:47783453
| MSH6 | G74* | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Lynch syndrome 5,
Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms | Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48025765
- GRCh38:
- Chr2:47798626
| MSH6 | | Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:48027305
- GRCh38:
- Chr2:47800166
| MSH6 | K728R, K598R, K426R | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Lynch syndrome 5, Turcot syndrome, Endometrial carcinoma
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48028136
- GRCh38:
- Chr2:47800997
| MSH6 | R1005L, R875L, R703L | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3, Endometrial carcinoma,
Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027637
- GRCh38:
- Chr2:47800498
| MSH6 | D839H, D537H, D709H | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Endometrial carcinoma,
Lynch syndrome 5, Turcot syndrome | Uncertain significance
(Jun 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48010556
- GRCh38:
- Chr2:47783417
| MSH6 | R62C | Lynch syndrome 5, Turcot syndrome, Endometrial carcinoma,
Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not specified | Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6018318
- GRCh38:
- Chr7:5978687
| PMS2 | L538fs, L594fs, L677fs, L729fs, L542fs, L418fs, L623fs, L626fs | Endometrial carcinoma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6027036
- GRCh38:
- Chr7:5987405
| PMS2 | | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not specified
| Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6037024
- GRCh38:
- Chr7:5997393
| PMS2 | P246T, P55T, P140T, P111T, P143T | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
| Uncertain significance
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6038907
- GRCh38:
- Chr7:5999276
| PMS2 | | Mismatch repair cancer syndrome 4, not provided, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Feb 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6043375
- GRCh38:
- Chr7:6003744
| PMS2 | Q100R | Lynch syndrome, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
| Conflicting interpretations of pathogenicity
(Apr 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6043434
- GRCh38:
- Chr7:6003803
| PMS2 | | Endometrial carcinoma | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr7:6045552
- GRCh38:
- Chr7:6005921
| PMS2 | N45T | Endometrial carcinoma | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:6048612
- GRCh38:
- Chr7:6008981
| PMS2 | | Endometrial carcinoma | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr7:6048644
- GRCh38:
- Chr7:6009013
| PMS2 | | Hereditary cancer-predisposing syndrome, not specified | Likely benign
(Aug 29, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6048663
- GRCh38:
- Chr7:6009032
| PMS2 | | Endometrial carcinoma | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr2:48033710-48033711
- GRCh38:
- Chr2:47806571-47806572
| MSH6 | Q1314fs, Q1012fs, Q1184fs | Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma | Pathogenic
(Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48030802
- GRCh38:
- Chr2:47803663
| MSH6 | G1139V, G837V, G1009V | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Conflicting interpretations of pathogenicity
(Aug 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48030825-48030826
- GRCh38:
- Chr2:47803686-47803687
| MSH6 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Conflicting interpretations of pathogenicity
(Jan 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:48026290
- GRCh38:
- Chr2:47799151
| MSH6 | D390fs, D260fs, D88fs | Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome, Endometrial carcinoma
| Pathogenic/Likely pathogenic
(Jun 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48032087
- GRCh38:
- Chr2:47804948
| MSH6 | | Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Endometrial carcinoma | Pathogenic
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48026889
- GRCh38:
- Chr2:47799750
| MSH6 | P591fs, P461fs, P289fs | Lynch syndrome 5, Hereditary nonpolyposis colon cancer, not provided,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027183
- GRCh38:
- Chr2:47800044
| MSH6 | C687W, C385W, C557W | Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48027266-48027267
- GRCh38:
- Chr2:47800127-47800128
| MSH6 | T586fs, T716fs, T414fs | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, Hereditary cancer-predisposing syndrome,
not provided | Pathogenic
(Jan 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:48033392-48033393
- GRCh38:
- Chr2:47806253-47806254
| MSH6 | L933fs, L1235fs, L1105fs | Endometrial carcinoma, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |