ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)

dbSNP: rs80357113
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000047392 SCV000075405 likely benign Hereditary breast ovarian cancer syndrome 2024-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000166228 SCV000217007 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001719800 SCV000531732 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23704879, 16905680, 15235020, 16518693, 27062684)
Counsyl RCV000083168 SCV000786010 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2018-02-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166228 SCV000912051 likely benign Hereditary cancer-predisposing syndrome 2018-05-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000083168 SCV001287425 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Revvity Omics, Revvity RCV001719800 SCV003830120 uncertain significance not provided 2021-03-12 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000166228 SCV003846074 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Mayo Clinic Laboratories, Mayo Clinic RCV001719800 SCV004224366 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing PM2
Sharing Clinical Reports Project (SCRP) RCV000083168 SCV000115242 benign Breast-ovarian cancer, familial, susceptibility to, 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083168 SCV000144038 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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