ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7007+3A>T

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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 RCV002364806 SCV002666778 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing The c.7007+3A>T intronic variant results from an A to T substitution 3 nucleotides after coding exon 12 in the BRCA2 gene. 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 6492 samples (12984 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of c.7007+3A>T remains unclear.

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