ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1497G>A (p.Gln499=)

dbSNP: rs2072414803
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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 RCV001224830 SCV001397053 likely benign Hereditary breast ovarian cancer syndrome 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032520 SCV005024510 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-21 criteria provided, single submitter clinical testing The c.1497G>A variant (also known as p.Q499Q), located in coding exon 9 of the BRCA2 gene, results from a G to A substitution at nucleotide position 1497. This nucleotide substitution does not change the glutamine at codon 499. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site; however direct evidence is insufficient (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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