ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe) (rs769712441)

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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 RCV000166405 SCV000217199 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000232849 SCV000289763 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-24 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 889 of the BRCA1 protein (p.Ser889Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs769712441, ExAC no frequency). This variant has been reported in an individual with breast cancer (PMID: 21918853). This variant is also known as 2785C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 186759). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758802 SCV000887651 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Color RCV000166405 SCV000911272 likely benign Hereditary cancer-predisposing syndrome 2017-06-08 criteria provided, single submitter clinical testing

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