ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2573C>T (p.Ser858Phe) (rs1064793893)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478046 SCV000567290 uncertain significance not provided 2015-07-20 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2573C>T at the cDNA level, p.Ser858Phe (S858F) at the protein level, and results in the change of a Serine to a Phenylalanine (TCT>TTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Ser858Phe 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 Serine and Phenylalanine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRIP1 Ser858Phe occurs at a position that is conserved in mammals and is located in the helicase domain (Cantor 2011). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRIP1 Ser858Phe is pathogenic or benign. We consider it to be a variant of uncertain significance.

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