ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5402G>A (p.Gly1801Asp) (rs531210457)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132269 SCV000187352 likely benign Hereditary cancer-predisposing syndrome 2015-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
GeneDx RCV000160007 SCV000210218 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000461010 SCV000549327 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-03-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1801 of the BRCA1 protein (p.Gly1801Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs531210457, ExAC 0.02%). This variant has been reported in the literature in individuals with personal and/or family history of breast cancer (PMID: 26689913, 22752604). It is also known as 5521G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 142834). 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 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.
Color RCV000132269 SCV000910793 benign Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing

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