ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3886T>C (p.Phe1296Leu)

dbSNP: rs1597860658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815649 SCV000956110 uncertain significance Hereditary breast ovarian cancer syndrome 2022-02-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 658764). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1296 of the BRCA1 protein (p.Phe1296Leu).
University of Washington Department of Laboratory Medicine, University of Washington RCV003158216 SCV003849627 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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