ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) (rs80357361)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031069 SCV001161495 benign Breast-ovarian cancer, familial 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000285
Invitae RCV000047959 SCV000075972 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000222489 SCV000273051 benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
Counsyl RCV000031069 SCV000488472 uncertain significance Breast-ovarian cancer, familial 1 2016-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000422777 SCV000512296 likely benign not specified 2017-03-30 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001281724 SCV000600301 likely benign not provided 2020-08-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000222489 SCV000910945 benign Hereditary cancer-predisposing syndrome 2016-09-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031069 SCV000053665 benign Breast-ovarian cancer, familial 1 2009-07-13 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031069 SCV000144535 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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