ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.36G>T (p.Gly12=) (rs45566938)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000124032 SCV000213560 likely benign Hereditary cancer-predisposing syndrome 2014-07-03 criteria provided, single submitter clinical testing
Color RCV000124032 SCV000684269 likely benign Hereditary cancer-predisposing syndrome 2015-08-04 criteria provided, single submitter clinical testing
Counsyl RCV000410111 SCV000490059 likely benign Fanconi anemia, complementation group J 2016-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000411186 SCV000490060 likely benign Neoplasm of ovary 2016-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000212296 SCV000167441 benign not specified 2014-04-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000269840 SCV000404620 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306266 SCV000404621 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588076 SCV000699726 benign not provided 2017-03-16 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.36G>T (p.Gly12Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. The variant lies within a P-loop domain, a helicase domain, a helicase-like DEXD box domain, and a helicase superfamily ATP-binding domain of the protein (InterPro), though none of these domains are listed in the NCBI Conserved Domain database at the variant location. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not signifcantly affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC in 31/121030 control chromosomes, exclusively observed in the European (Non-Finnish) subpopulation at a frequency of 0.000466 (31/66568). This frequency is about 7 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in populations of European (Non-Finnish) origin. Multiple clinical diagnostic laboratories/reputable databases have conflicting classifications for this variant, most of which are benign or likely benign (benign [2x], likely benign [3x], and uncertain significance [2x]). To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000197948 SCV000252878 benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-27 criteria provided, single submitter clinical testing

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