ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp) (rs202004680)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221501 SCV000276391 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-11 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000227370 SCV000289766 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 928 of the BRCA1 protein (p.Gly928Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 16267036). ClinVar contains an entry for this variant (Variation ID: 41813). 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 aspartic acid 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. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034736 SCV000600302 uncertain significance not provided 2019-08-18 criteria provided, single submitter clinical testing
Color RCV000221501 SCV001347079 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-25 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034736 SCV000043172 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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