ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) (rs799917)

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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 RCV000221093 SCV000274433 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-23 criteria provided, single submitter clinical testing The p.P871R variant (also known as c.2612C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 2612. The proline at codon 871 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species with leucine as the reference amino acid throughout with the exception of only humans having proline as reference amino acid. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000442717 SCV000515312 likely benign not specified 2017-08-08 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 RCV000463451 SCV000560221 likely benign Hereditary breast and ovarian cancer syndrome 2020-07-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000442717 SCV000600296 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000442717 SCV001363818 uncertain significance not specified 2021-06-10 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.2612C>G (p.Pro871Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251034 control chromosomes, predominantly at a frequency of 0.00012 within the Latino subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2612C>G has been reported in the literature in individuals affected with breast cancer (example: Sirisena_2018, Cecener_2020). These reports however, do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four other ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=2) or likely benign (n=2). Based on the evidence outlined above, the variant was classified as uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000077111 SCV000108908 likely benign Breast-ovarian cancer, familial 1 2009-06-02 no assertion criteria provided clinical testing

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