ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.785A>C (p.Glu262Ala) (rs876658283)

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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 RCV000221058 SCV000273314 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000470570 SCV000547256 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-01-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 262 of the BRIP1 protein (p.Glu262Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with pancreatic cancer (PMID: 28767289). This variant is referred to as c.785T>G (p.E262A) in the literature. ClinVar contains an entry for this variant (Variation ID: 229938). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000221058 SCV000689417 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000221058 SCV000787973 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-16 no assertion criteria provided clinical testing

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