ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) (rs45459799)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564063 SCV000661472 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000564063 SCV000902986 likely benign Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing
Counsyl RCV000410552 SCV000490091 uncertain significance Fanconi anemia, complementation group J 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000411595 SCV000490092 uncertain significance Neoplasm of ovary 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000196200 SCV000255179 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-06-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 227 of the BRIP1 protein (p.Gln227Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs45459799, ExAC 0.007%). This variant has been reported in individuals affected with breast cancer as well as in an unaffected individual (PMID: 26921362). ClinVar contains an entry for this variant (Variation ID: 216800). 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 glutamic acid 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.
True Health Diagnostics RCV000564063 SCV000787972 likely benign Hereditary cancer-predisposing syndrome 2017-10-16 no assertion criteria provided clinical testing

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