ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9169T>G (p.Phe3057Val)

dbSNP: rs587781434
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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 RCV000129327 SCV000184090 uncertain significance Hereditary cancer-predisposing syndrome 2013-11-15 criteria provided, single submitter clinical testing The p.F3057V variant (also known as c.9169T>G or 9397T>G) is located in coding exon 23 of the BRCA2 gene. This alteration results from a T to G substitution at nucleotide position 9169. The phenylalanine at codon 3057 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. Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of p.F3057V remains unclear.

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