ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.538A>G (p.Ile180Val)

dbSNP: rs1555281048
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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 RCV000529169 SCV000635450 uncertain significance Hereditary breast ovarian cancer syndrome 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 180 of the BRCA2 protein (p.Ile180Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 462378). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV001024016 SCV001185967 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-16 criteria provided, single submitter clinical testing The p.I180V variant (also known as c.538A>G), located in coding exon 6 of the BRCA2 gene, results from an A to G substitution at nucleotide position 538. The isoleucine at codon 180 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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 RCV004568785 SCV005059050 uncertain significance Familial cancer of breast 2024-02-18 criteria provided, single submitter clinical testing

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