ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9304G>A (p.Ala3102Thr)

gnomAD frequency: 0.00001  dbSNP: rs747073940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548354 SCV000635736 uncertain significance Hereditary breast ovarian cancer syndrome 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3102 of the BRCA2 protein (p.Ala3102Thr). This variant is present in population databases (rs747073940, gnomAD 0.007%). 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: 462522). 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. 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 RCV000562297 SCV000673098 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-01 criteria provided, single submitter clinical testing The p.A3102T variant (also known as c.9304G>A), located in coding exon 24 of the BRCA2 gene, results from a G to A substitution at nucleotide position 9304. The alanine at codon 3102 is replaced by threonine, an amino acid with 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.
Mendelics RCV000548354 SCV000838900 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000562297 SCV001357092 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-11 criteria provided, single submitter clinical testing

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