ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) (rs75091137)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000212332 SCV000602890 benign not specified 2016-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000124029 SCV000213102 likely benign Hereditary cancer-predisposing syndrome 2014-08-06 criteria provided, single submitter clinical testing
Color RCV000124029 SCV000684237 benign Hereditary cancer-predisposing syndrome 2015-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000409545 SCV000489841 likely benign Fanconi anemia, complementation group J 2016-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000410359 SCV000489842 likely benign Neoplasm of ovary 2016-06-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212332 SCV000859976 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000212332 SCV000167438 benign not specified 2014-01-29 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 RCV000212332 SCV000593762 likely benign not specified 2017-02-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588358 SCV000699709 benign not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.2937A>G (p.Lys979Lys) variant causes a synonymous change involving a non-conserved nucleotide with 4/5 splice prediction tools predicting no significant impact on splicing and no alteration to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 79/121074 (1 homozygote, 1/1532), predominantly in the African cohort, 75/10358 (1 homozygote, 1/138), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic BRIP1 variant of 1/16000 (0.0000625). Therefore, suggesting the variant is a common polymorphism found in population(s) of African origin. The variant of interest, to our knowledge, has not been reported in affected individuals via publications. However, multiple reputable databases/clinical laboratories cite the variant as "likely benign/benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as Benign.
Invitae RCV000198911 SCV000252876 benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000212332 SCV000807140 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212332 SCV000600909 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588358 SCV000887993 benign not provided 2018-01-29 criteria provided, single submitter clinical testing

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