ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.888G>C (p.Glu296Asp) (rs876658249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221644 SCV000273248 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000229608 SCV000291061 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 296 of the BRIP1 protein (p.Glu296Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an unaffected control individual (PMID: 26921362). ClinVar contains an entry for this variant (Variation ID: 229882). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on BRIP1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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