ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.837G>C (p.Arg279Ser) (rs759584091)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478189 SCV000571930 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.837G>C at the cDNA level, p.Arg279Ser (R279S) at the protein level, and results in the change of an Arginine to a Serine (AGG>AGC). This variant was observed in an individual with lung adenocarcinoma (Lu 2015). BRIP1 Arg279Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Arginine and Serine differ in some properties, this is considered a semi-conservative amino acid substitution. BRIP1 Arg279Ser occurs at a position that is conserved across species and is located in the Helicase ATP-binding domain (Cantor 2011, UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BRIP1 Arg279Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000568517 SCV000668957 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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