ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val) (rs1310719199)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554416 SCV000635811 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 571 of the BRCA1 protein (p.Ile571Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. 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 valine 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.
Integrated Genetics/Laboratory Corporation of America RCV001193800 SCV001362915 uncertain significance not specified 2019-10-14 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.1711A>G (p.Ile571Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250740 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1711A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites this variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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