ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) (rs1805321)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030364 SCV000108294 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079103 SCV000110972 benign not specified 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130721 SCV000185608 benign Hereditary cancer-predisposing syndrome 2014-07-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000130721 SCV000292075 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079103 SCV000304717 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000515612 SCV000469733 benign Hereditary nonpolyposis colorectal cancer type 4 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079103 SCV000592934 benign not specified 2014-12-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000079103 SCV000604897 benign not specified 2018-07-09 criteria provided, single submitter clinical testing
IntelligeneCG RCV000515612 SCV000611718 benign Hereditary nonpolyposis colorectal cancer type 4 2017-08-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079103 SCV000711441 benign not specified 2017-04-20 criteria provided, single submitter clinical testing p.Pro470Ser in Exon 11 of PMS2: This variant is not expected to have clinical si gnificance because it has been identified in 45% (4560/10152) of Ashkenazi Jewis h chromosomes and 41% (52732/126656) of European chromosomes by the Genome Aggre gation Database (GnomAD, http://gnomad.broadinstitute.org; dbSNP rs1805321).
Counsyl RCV000515612 SCV000785318 benign Hereditary nonpolyposis colorectal cancer type 4 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV001080458 SCV001000261 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034614 SCV000043430 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000030364 SCV000053031 benign Lynch syndrome 2011-06-22 no assertion criteria provided clinical testing
ITMI RCV000079103 SCV000086042 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144645 SCV000189972 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079103 SCV000691974 benign not specified no assertion criteria provided clinical testing

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