ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7401T>G (p.Ala2467=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003051602 SCV003343313 likely benign Hereditary breast ovarian cancer syndrome 2022-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948929 SCV005548673 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-01 criteria provided, single submitter clinical testing The c.7401T>G variant (also known as p.A2467A), located in coding exon 13 of the BRCA2 gene, results from a T to G substitution at nucleotide position 7401. This nucleotide substitution does not change the alanine at codon 2467. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive, and direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.

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