ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8194T>G (p.Leu2732Val)

dbSNP: rs1060504634
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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 RCV000510080 SCV000607931 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-21 criteria provided, single submitter clinical testing The p.L2732V variant (also known as c.8194T>G), located in coding exon 17 of the BRCA2 gene, results from a T to G substitution at nucleotide position 8194. The leucine at codon 2732 is replaced by valine, an amino acid with highly 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. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0003% (greater than 300000 alleles tested) in our clinical cohort. This amino acid position is well conserved in available vertebrate species, however valine is the reference amino acid in two species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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