Submissions for variant NM_000535.7(PMS2):c.1398C>T (p.Gly466=)

gnomAD frequency: 0.00001  dbSNP: rs752666485

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000218235	SCV000275288	likely benign	Hereditary cancer-predisposing syndrome	2015-05-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000229621	SCV000285068	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000218235	SCV000686123	likely benign	Hereditary cancer-predisposing syndrome	2017-03-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000612830	SCV000721615	likely benign	not specified	2017-02-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
University of Washington Department of Laboratory Medicine, University of Washington	RCV000758630	SCV000887387	benign	Lynch syndrome	2018-05-01	criteria provided, single submitter	clinical testing	PMS2 NM_000535.5:c.1398C>T has a 0.9% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the PMS2 locus. See Shirts et al 2018, PMID 29887214.
CeGaT Center for Human Genetics Tuebingen	RCV003884415	SCV004702144	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PMS2: BP4, BP7