ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2543G>A (p.Arg848His) (rs374334794)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130056 SCV000184883 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000130056 SCV000909762 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-12 criteria provided, single submitter clinical testing
Counsyl RCV000663220 SCV000786407 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2018-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000699539 SCV000896650 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000699539 SCV000828254 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 848 of the BRIP1 protein (p.Arg848His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with cutaneous malignant melanoma and liver carcinoma (PMID: 27074266), and in an individual with breast cancer (PMID: 26790966) or ovarian cancer (PMID: 29368626). ClinVar contains an entry for this variant (Variation ID: 141499). 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.

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