ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3727G>T (p.Gly1243Cys) (rs587780250)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116159 SCV000150068 uncertain significance not provided 2014-02-05 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.3727G>T at the cDNA level, p.Gly1243Cys (G1243C) at the protein level, and results in the change of a Glycine to a Cysteine (GGC>TGC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Gly1243Cys 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. This variant is a non-conservative substitution in which a neutral non-polar amino acid is replaced with a neutral polar one, altering a position that is moderately conserved throughout evolution and is not located in a known functional domain. In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. Based on the currently available information, we consider BRIP1 Gly1243Cys to be a variant of uncertain significance. Furthermore, BRIP1 has been only recently described in association with cancer predisposition and the risks are not well understood.

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