ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1012G>A (p.Ala338Thr) (rs80358396)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509731 SCV000608018 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000112875 SCV000145805 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000509731 SCV000688688 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000043719 SCV000071732 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 338 of the BRCA2 protein (p.Ala338Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs80358396, ExAC 0.008%). This variant has been reported in an individual with breast and/or ovarian cancer (PMID: 22425665). ClinVar contains an entry for this variant (Variation ID: 51048). 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.
Mendelics RCV000043719 SCV000838751 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759572 SCV000888972 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing

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