ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7822C>G (p.Pro2608Ala) (rs879255308)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239253 SCV000296562 uncertain significance Breast-ovarian cancer, familial 2 2016-03-09 criteria provided, single submitter clinical testing
Invitae RCV000474942 SCV000549859 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-07-10 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 2608 of the BRCA2 protein (p.Pro2608Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000567257 SCV000668522 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000239253 SCV000785284 uncertain significance Breast-ovarian cancer, familial 2 2017-06-28 criteria provided, single submitter clinical testing
Color RCV000567257 SCV000905232 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-27 criteria provided, single submitter clinical testing

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