ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1094G>A (p.Arg365Lys)

dbSNP: rs2053994698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219425 SCV001391363 uncertain significance Hereditary breast ovarian cancer syndrome 2022-02-25 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: 948211). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 365 of the BRCA1 protein (p.Arg365Lys).
University of Washington Department of Laboratory Medicine, University of Washington RCV003158526 SCV003846177 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).
Ambry Genetics RCV003158526 SCV005100980 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-23 criteria provided, single submitter clinical testing The p.R365K variant (also known as c.1094G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 1094. The arginine at codon 365 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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