ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3242A>G (p.Asn1081Ser)

dbSNP: rs753440254
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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 RCV000820078 SCV000960772 uncertain significance Hereditary breast ovarian cancer syndrome 2023-05-25 criteria provided, single submitter clinical testing 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: 662436). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (rs753440254, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1081 of the BRCA1 protein (p.Asn1081Ser). 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158237 SCV003849075 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 RCV003158237 SCV005100569 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-16 criteria provided, single submitter clinical testing The p.N1081S variant (also known as c.3242A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 3242. The asparagine at codon 1081 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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