ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9195T>A (p.Phe3065Leu)

dbSNP: rs80359179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709339 SCV000838898 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371798 SCV002687064 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-24 criteria provided, single submitter clinical testing The p.F3065L variant (also known as c.9195T>A), located in coding exon 23 of the BRCA2 gene, results from a T to A substitution at nucleotide position 9195. The phenylalanine at codon 3065 is replaced by leucine, an amino acid with highly similar properties. In a study utilizing a bioinformatics method that integrates information about protein sequence, conservation, and structure in a protein likelihood ratio, the effect of this alteration was predicted neutral (Karchin R et al. Cancer Inform 2008; 6:203-16). This variant was previously reported in the SNPDatabase as rs80359179, but was not reported in the NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. 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 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.F3065L remains unclear.
Sharing Clinical Reports Project (SCRP) RCV000031802 SCV000054410 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2009-12-02 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031802 SCV000147564 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing

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