ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1941G>T (p.Trp647Cys) (rs786202760)

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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 RCV000165735 SCV000216476 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-01 criteria provided, single submitter clinical testing Insufficient evidence
Counsyl RCV000410856 SCV000489991 uncertain significance Fanconi anemia, complementation group J 2016-09-07 criteria provided, single submitter clinical testing
Counsyl RCV000412383 SCV000489992 uncertain significance Neoplasm of ovary 2016-09-07 criteria provided, single submitter clinical testing
Invitae RCV000542964 SCV000633583 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 647 of the BRIP1 protein (p.Trp647Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. 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. However, a different nucleotide change c.1941G>C resulting in the same amino acid change at codon 647 (p.Trp647Cys) along with a second missense change c.2119C>T (p.Arg707Cys) in BRIP1 has been reported in an individual affected with Fanconi anemia complementation group J (PMID: 16116423), whether these two variants were the cause of disease in that individual remains uncertain. The c.1941G>C variant has also been reported in an individual with breast cancer (PMID: 25981591). ClinVar contains an entry for this variant (Variation ID: 186189). This missense change has been reported to affect BRIP1 protein function (PMID: 29788478). 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.
Color RCV000165735 SCV000684170 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-30 criteria provided, single submitter clinical testing

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