ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu) (rs587776484)

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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 RCV000567790 SCV000660983 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV001193801 SCV001362917 uncertain significance not specified 2019-12-09 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.2690C>T (p.Pro897Leu) 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 was absent in 250908 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2690C>T has been reported in the literature in a family affected with Hereditary Breast and Ovarian Cancer (Wagner_1998). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001216620 SCV001388425 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 897 of the BRCA1 protein (p.Pro897Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family with breast and ovarian cancer (PMID: 9663595). This variant is also known as 2809C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 156188). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Sharing Clinical Reports Project (SCRP) RCV000144205 SCV000189278 likely benign Breast-ovarian cancer, familial 1 2013-11-19 no assertion criteria provided clinical testing

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