ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2963C>T (p.Ser988Phe) (rs758032378)

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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 RCV000568516 SCV000661524 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000799177 SCV000938830 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-09-23 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 988 of the BRIP1 protein (p.Ser988Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs758032378, ExAC 0.002%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 479428). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.

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