ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9703G>A (p.Ala3235Thr)

dbSNP: rs1566260850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773811 SCV000907511 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002298760 SCV002590149 uncertain significance Hereditary breast ovarian cancer syndrome 2022-09-25 criteria provided, single submitter clinical testing 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: 629122). 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. 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. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3235 of the BRCA2 protein (p.Ala3235Thr).
Ambry Genetics RCV000773811 SCV002692651 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter clinical testing The p.A3235T variant (also known as c.9703G>A), located in coding exon 26 of the BRCA2 gene, results from a G to A substitution at nucleotide position 9703. The alanine at codon 3235 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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.

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