ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2428A>G (p.Thr810Ala) (rs80358508)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000043990 SCV000072003 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-07-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 810 of the BRCA2 protein (p.Thr810Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine 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. ClinVar contains an entry for this variant (Variation ID: 51281). 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 alanine amino acid residue is also 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, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508135 SCV000600512 uncertain significance not specified 2016-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564107 SCV000661363 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-20 criteria provided, single submitter clinical testing Insufficient evidence
Counsyl RCV000077278 SCV000784815 uncertain significance Breast-ovarian cancer, familial 2 2017-01-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077278 SCV000109075 uncertain significance Breast-ovarian cancer, familial 2 2011-08-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077278 SCV000146043 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing

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