ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2948T>A (p.Ile983Asn) (rs587781417)

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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 RCV000129283 SCV000184044 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Color RCV000129283 SCV000911638 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Counsyl RCV000412403 SCV000489975 uncertain significance Fanconi anemia, complementation group J 2016-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000409964 SCV000489976 uncertain significance Neoplasm of ovary 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV000636117 SCV000757549 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-10-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 983 of the BRIP1 protein (p.Ile983Asn). The isoleucine residue is weakly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 140985). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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