ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.39A>C (p.Glu13Asp)

dbSNP: rs1555280111
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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 RCV000564529 SCV000673078 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-05 criteria provided, single submitter clinical testing The p.E13D variant (also known as c.39A>C), located in coding exon 1 of the BRCA2 gene, results from an A to C substitution at nucleotide position 39. The glutamic acid at codon 13 is replaced by aspartic acid, 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 0.0004% (greater than 225000 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.E13D remains unclear.

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