ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7693G>A (p.Glu2565Lys) (rs764761862)

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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 RCV000509639 SCV000608132 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-26 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000765137 SCV000896363 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000509639 SCV000911807 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-22 criteria provided, single submitter clinical testing
Invitae RCV001217044 SCV001388871 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2565 of the BRCA2 protein (p.Glu2565Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs764761862, ExAC 0.001%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 441448). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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