Submissions for variant NM_000535.7(PMS2):c.1689A>G (p.Arg563=)

gnomAD frequency: 0.00011  dbSNP: rs551226281

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000559886	SCV000625551	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-12-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571228	SCV000663439	likely benign	Hereditary cancer-predisposing syndrome	2024-03-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000571228	SCV000691041	likely benign	Hereditary cancer-predisposing syndrome	2015-04-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001164193	SCV001326302	likely benign	Lynch syndrome 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Sema4, Sema4	RCV000571228	SCV002530218	likely benign	Hereditary cancer-predisposing syndrome	2021-06-25	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV002512109	SCV002821801	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PMS2: BP4, BP7
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000571228	SCV004228032	benign	Hereditary cancer-predisposing syndrome	2023-11-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003761	SCV004844153	likely benign	Lynch syndrome	2023-12-01	criteria provided, single submitter	clinical testing