ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5808G>A (p.Met1936Ile) (rs759138390)

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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 RCV000165123 SCV000215833 likely benign Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Color RCV000165123 SCV000683736 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing
Counsyl RCV000663021 SCV000786042 uncertain significance Breast-ovarian cancer, familial 2 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV000457784 SCV000549788 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1936 of the BRCA2 protein (p.Met1936Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs759138390, ExAC 0.01%). This variant has been reported in an individual with a personal and/or family history of breast/ovarian cancer (PMID: 16683254). ClinVar contains an entry for this variant (Variation ID: 185665). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. 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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