ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10226A>G (p.Gln3409Arg)

gnomAD frequency: 0.00001  dbSNP: rs786203099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166256 SCV000217036 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing The p.Q3409R variant (also known as c.10226A>G and 10454A>G) is located in coding exon 26 of the BRCA2 gene. This alteration results from a A to G substitution at nucleotide position 10226. The glutamine at codon 3409 is replaced by arginine, an amino acid with some similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 64,000 alleles tested) in our clinical cohort. This amino acid position is not 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 p.Q3409R remains unclear.

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