ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.175C>A (p.Pro59Thr)

dbSNP: rs56091799
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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 RCV000129316 SCV000184079 uncertain significance Hereditary cancer-predisposing syndrome 2013-12-30 criteria provided, single submitter clinical testing The p.P59T variant (also known as c.175C>A or 403C>A), located in coding exon 2 of the BRCA2 gene, results from a C to A substitution at nucleotide position 175. The proline at codon 59 is replaced by threonine, 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 addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence is limited at this time, the clinical significance ofp.P59Tremains unclear.

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