ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5085T>A (p.Phe1695Leu)

dbSNP: rs80357387
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562837 SCV000660974 likely benign Hereditary cancer-predisposing syndrome 2020-02-10 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 RCV001853018 SCV002187048 uncertain significance Hereditary breast ovarian cancer syndrome 2023-04-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 16528612, 20516115, 30209399, 30257991). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 55389). This missense change has been observed in individual(s) with breast cancer (PMID: 12827452). This variant is present in population databases (rs80357387, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1695 of the BRCA1 protein (p.Phe1695Leu).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112493 SCV000145305 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 1999-06-22 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000112493 SCV001244065 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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