ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.897G>A (p.Met299Ile) (rs137852985)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582137 SCV000689420 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
Invitae RCV000636166 SCV000757598 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-09-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 299 of the BRIP1 protein (p.Met299Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with early-onset breast cancer (PMID: 11301010). ClinVar contains an entry for this variant (Variation ID: 4737). Experimental studies using recombinant BRIP1 proteins have shown this missense change results in increased ATPase and helicase activities when compared to the wild-type BRIP1 recombinant protein (PMID:  14983014, 17145708). 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.
OMIM RCV000005003 SCV000025179 pathogenic Breast cancer, early-onset 2019-04-19 no assertion criteria provided literature only

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