ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) (rs754414731)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165883 SCV000216634 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000165883 SCV000903605 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-28 criteria provided, single submitter clinical testing
Counsyl RCV000662956 SCV000785926 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2018-01-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269215 SCV000404606 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326593 SCV000404607 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537150 SCV000633565 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 547 of the BRIP1 protein (p.Asp547Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs754414731, ExAC 0.002%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 186309). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758989 SCV000887982 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing

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