ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9104A>T (p.Tyr3035Phe)

dbSNP: rs80359165
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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 RCV000222210 SCV000276683 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-29 criteria provided, single submitter clinical testing The p.Y3035F variant (also known as c.9104A>T and 9332A>T), located in coding exon 22 of the BRCA2 gene, results from an A to T substitution at nucleotide position 9104. The tyrosine at codon 3035 is replaced by phenylalanine, 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 6502 samples (13004 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 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.Y3035F remains unclear.

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