ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5540G>T (p.Cys1847Phe)

gnomAD frequency: 0.00001  dbSNP: rs1182000313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706010 SCV000835037 uncertain significance Hereditary breast ovarian cancer syndrome 2022-07-19 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: 30209399). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 582037). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 1847 of the BRCA1 protein (p.Cys1847Phe).
Ambry Genetics RCV003303193 SCV004004301 likely benign Hereditary cancer-predisposing syndrome 2023-03-31 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.
Brotman Baty Institute, University of Washington RCV001077575 SCV001243525 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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