ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3992A>G (p.Gln1331Arg)

dbSNP: rs1060502363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467046 SCV000549413 uncertain significance Hereditary breast ovarian cancer syndrome 2022-01-23 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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: 409366). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 21318380). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1331 of the BRCA1 protein (p.Gln1331Arg).
University of Washington Department of Laboratory Medicine, University of Washington RCV003157522 SCV003849199 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).

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