ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.317G>A (p.Arg106His) (rs143615668)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131589 SCV000186601 likely benign Hereditary cancer-predisposing syndrome 2017-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Other strong data supporting benign classification
Invitae RCV000588637 SCV000253628 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000220020 SCV000278891 likely benign not specified 2017-12-06 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.
Genetic Services Laboratory, University of Chicago RCV000220020 SCV000593769 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588637 SCV000699715 likely benign not provided 2017-05-26 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.317G>A (p.Arg106His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 16/121406 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.001153 (12/10406). This frequency is about 18 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 African origin. The variant has been reported in a 32 y.o. patient with colorectal cancer who also carries a known pathogenic APC variant (c.1759del/p.S587Afs*3, Pearlman_JAMAOnc_2016). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign (2) and VUS (1). Taken together, this variant is classified as likely benign.
Counsyl RCV000663050 SCV000786100 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2018-02-21 criteria provided, single submitter clinical testing
Color RCV000131589 SCV000910802 benign Hereditary cancer-predisposing syndrome 2015-09-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588637 SCV001134024 likely benign not provided 2018-12-11 criteria provided, single submitter clinical testing

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