ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2086A>G (p.Thr696Ala) (rs80357441)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047707 SCV000075720 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-07-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 696 of the BRCA1 protein (p.Thr696Ala). 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 BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 54457). 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. 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.
Ambry Genetics RCV000562283 SCV000665850 likely benign Hereditary cancer-predisposing syndrome 2016-06-02 criteria provided, single submitter clinical testing Other strong data supporting benign classification;In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA1) RCV000111767 SCV000144298 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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