ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6443C>T (p.Ser2148Phe) (rs80358880)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755871 SCV000883502 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing The BRCA2 c.6443C>T; p.Ser2148Phe variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The serine at codon 2148 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Ser2148Phe variant is uncertain at this time.

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