ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9795C>G (p.Cys3265Trp)

dbSNP: rs876658795
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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 RCV000218109 SCV000274498 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing The p.C3265W variant (also known as c.9795C>G and 10023C>G), located in coding exon 26 of the BRCA2 gene, results from a C to G substitution at nucleotide position 9795. The cysteine at codon 3265 is replaced by tryptophan, an amino acid with highly dissimilar 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 0.001% (greater than 105,000 alleles tested) in our clinical cohort. This amino acid position is somewhat 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.C3265W remains unclear.

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