ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.781G>A (p.Ala261Thr)

dbSNP: rs1135401831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581375 SCV000689070 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581375 SCV005029645 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-19 criteria provided, single submitter clinical testing The p.A261T variant (also known as c.781G>A), located in coding exon 8 of the BRCA2 gene, results from a G to A substitution at nucleotide position 781. The alanine at codon 261 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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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