ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8507C>T (p.Ser2836Phe) (rs863224599)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196282 SCV000254220 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-04-09 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2836 of the BRCA2 protein (p.Ser2836Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000580488 SCV000683975 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-01 criteria provided, single submitter clinical testing
Counsyl RCV000662827 SCV000785676 uncertain significance Breast-ovarian cancer, familial 2 2017-10-27 criteria provided, single submitter clinical testing

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