Submissions for variant NM_000535.7(PMS2):c.250+8G>A

dbSNP: rs1057520511

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429490	SCV000515780	likely benign	not specified	2016-06-06	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	RCV000758694	SCV000887467	benign	Lynch syndrome	2018-05-01	criteria provided, single submitter	clinical testing	PMS2 NM_000535.5:c.250+8G>A 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.
Invitae	RCV001504923	SCV001709810	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-07-20	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258886	SCV002530311	likely benign	Hereditary cancer-predisposing syndrome	2020-11-05	criteria provided, single submitter	curation