ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.338C>T (p.Thr113Ile) (rs778480809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535510 SCV000633668 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 113 of the BRIP1 protein (p.Thr113Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs778480809, ExAC 0.01%). This variant has been reported in an individual affected with a pancreatic carcinoid tumor as well as an individual with suspected Lynch syndrome (PMID: 28767289, 25980754). This variant is also known as c.338G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 461149). 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 isoleucine 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.
Ambry Genetics RCV000571933 SCV000661482 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
Color RCV000571933 SCV000903710 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing

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