ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6916G>A (p.Ala2306Thr) (rs730881550)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566440 SCV000668656 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000588806 SCV000695006 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing
Invitae RCV000198357 SCV000254201 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 2306 of the BRCA2 protein (p.Ala2306Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. 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: "Benign"; 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.

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