ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.388G>A (p.Val130Ile)

dbSNP: rs1566218197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773561 SCV000907255 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773561 SCV001182974 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-24 criteria provided, single submitter clinical testing The p.V130I variant (also known as c.388G>A), located in coding exon 3 of the BRCA2 gene, results from a G to A substitution at nucleotide position 388. The valine at codon 130 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536654 SCV002957919 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-07 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 BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 628896). This missense change has been observed in individual(s) with breast cancer (PMID: 31465090). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 130 of the BRCA2 protein (p.Val130Ile).
Baylor Genetics RCV004569448 SCV005059030 uncertain significance Familial cancer of breast 2024-02-25 criteria provided, single submitter clinical testing

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