ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.10A>G (p.Met4Val) (rs45512093)

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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 RCV000216902 SCV000276378 likely benign Hereditary cancer-predisposing syndrome 2016-08-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: in silico models in agreement (benign),Insufficient or Conflicting Evidence,Other strong data supporting benign classification
Color RCV000216902 SCV000903620 likely benign Hereditary cancer-predisposing syndrome 2017-02-23 criteria provided, single submitter clinical testing
GeneKor MSA RCV000216902 SCV000821952 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000467101 SCV000547247 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 4 of the BRIP1 protein (p.Met4Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 26921362) and in an individual with clinical features of Lynch syndrome (PMID: 25980754). ClinVar contains an entry for this variant (Variation ID: 232285). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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