ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1006G>A (p.Ala336Thr) (rs587782100)

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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 RCV000130613 SCV000185489 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Counsyl RCV000410382 SCV000488276 uncertain significance Breast-ovarian cancer, familial 2 2016-02-10 criteria provided, single submitter clinical testing
Color RCV000130613 SCV000904684 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
Invitae RCV000809632 SCV000949795 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 336 of the BRCA2 protein (p.Ala336Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs587782100, ExAC 0.003%). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 141906). 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 threonine 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 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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