ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1935+7T>C (rs201024366)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000445956 SCV000537445 likely benign Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000421160 SCV000512422 benign not specified 2015-07-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000585911 SCV000699679 benign not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1935+7T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 12/121040 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.001388 (12/8646). This frequency is about 22 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000228523 SCV000290995 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000585911 SCV000889201 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing

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