ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2689A>G (p.Lys897Glu) (rs587781644)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129774 SCV000184583 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000478765 SCV000571146 uncertain significance not provided 2016-07-27 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2689A>G at the cDNA level, p.Lys897Glu (K897E) at the protein level, and results in the change of a Lysine to a Glutamic Acid (AAG>GAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Lys897Glu 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 Lysine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRIP1 Lys897Glu occurs at a position that is not conserved and is not located in a known functional domain (Cantor 2011). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRIP1 Lys897Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000478765 SCV001048550 likely benign not provided 2018-08-18 criteria provided, single submitter clinical testing

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