ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3041T>A (p.Met1014Lys) (rs80357020)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000048057 SCV000076070 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-22 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 1014 of the BRCA1 protein (p.Met1014Lys). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is present in population databases (rs80357020, ExAC 0.009%). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 54761). 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 lysine 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.
Ambry Genetics RCV000129436 SCV000184206 uncertain significance Hereditary cancer-predisposing syndrome 2013-12-06 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506266 SCV000600314 uncertain significance not specified 2017-03-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758805 SCV000887656 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Color RCV000129436 SCV000909322 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-22 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111989 SCV000144619 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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