ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9340A>G (p.Ile3114Val)

dbSNP: rs1555289545
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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 RCV000813020 SCV000953353 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 BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 656571). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3114 of the BRCA2 protein (p.Ile3114Val).
Ambry Genetics RCV002372286 SCV002687404 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-14 criteria provided, single submitter clinical testing The p.I3114V variant (also known as c.9340A>G), located in coding exon 24 of the BRCA2 gene, results from an A to G substitution at nucleotide position 9340. The isoleucine at codon 3114 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003461213 SCV004216072 uncertain significance Familial cancer of breast 2023-06-19 criteria provided, single submitter clinical testing

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