ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4901T>C (p.Phe1634Ser) (rs80358715)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166286 SCV000217069 likely benign Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000113357 SCV000146503 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000166286 SCV000903515 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000254744 SCV000321466 uncertain significance not provided 2018-03-28 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4901T>C at the cDNA level, p.Phe1634Ser (F1634S) at the protein level, and results in the change of a Phenylalanine to a Serine (TTT>TCT). This variant, also known as 5129T>C using alternate nomenclature, has been reported in at least one individual with breast cancer (Tung 2016). BRCA2 Phe1634Ser was not observed at a significant allele frequency in large population cohorts (Lek 2016). BRCA2 Phe1634Ser is located within the region of interaction with POLH and RAD51 (Roy 2012, Buisson 2014). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available information, it is unclear whether BRCA2 Phe1634Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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