ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1077A>G (p.Ile359Met) (rs730881634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160336 SCV000210839 uncertain significance not provided 2014-07-23 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1077A>G at the cDNA level, p.Ile359Met (I359M) at the protein level, and results in the change of an Isoleucine to a Methionine (ATA>ATG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Ile359Met was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Isoleucine and Methionine share similar properties, this is considered a conservative amino acid substitution. BRIP1 Ile359Met occurs at a position that is moderately conserved across species and is located in the Helicase ATP-binding domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRIP1 Ile359Met is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000565573 SCV000661458 likely benign Hereditary cancer-predisposing syndrome 2016-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification

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