ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3079G>A (p.Glu1027Lys) (rs371185409)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215643 SCV000273979 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000484982 SCV000558589 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000484982 SCV000572267 uncertain significance not provided 2018-09-28 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.3079G>A at the cDNA level, p.Glu1027Lys (E1027K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAG>AAG). This variant was observed in an individual with a personal history of Lynch syndrome-associated cancer and/or colon polyps, in an individual with rectal cancer, and in a woman that met testing criteria for Hereditary Breast and Ovarian Cancer (Yurgelun 2015, Pearlman 2017, Cock-Rada 2018). BRIP1 Glu1027Lys was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the BRCA1 binding domain (Cantor 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRIP1 Glu1027Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
PreventionGenetics,PreventionGenetics RCV000484982 SCV000807141 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing

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