ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) (rs202228407)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588516 SCV000883523 likely benign not provided 2017-07-27 criteria provided, single submitter clinical testing The BRIP1 c.3099T>C;p.Pro1033Pro variant has not been described in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 184008) and the dbSNP variant database (rs202228407) with an allele frequency of up to 0.5433 percent (187/34420 alleles, 2 homozygotes) in the Latino population in Genome Aggregation Database. The nucleotide at this position is weakly conserved across species and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant has no significant effect on splicing. Considering available information, this variant is classified as likely benign.
Ambry Genetics RCV000163110 SCV000213620 likely benign Hereditary cancer-predisposing syndrome 2014-06-26 criteria provided, single submitter clinical testing
Color RCV000163110 SCV000684247 benign Hereditary cancer-predisposing syndrome 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000409374 SCV000490041 likely benign Fanconi anemia, complementation group J 2016-10-11 criteria provided, single submitter clinical testing
Counsyl RCV000410011 SCV000490042 likely benign Neoplasm of ovary 2016-10-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310664 SCV000404578 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367622 SCV000404579 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588516 SCV000699712 benign not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.3099T>C (p.Pro1033Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 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 75/121402 control chromosomes (2 homozygotes), predominantly observed in the Latino subpopulation at a frequency of 0.0064778 (75/11578). This frequency is about 104 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 Latino origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely 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 RCV000195671 SCV000252877 benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000506953 SCV000807142 benign not specified 2017-03-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506953 SCV000600912 likely benign not specified 2016-10-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588516 SCV000887998 benign not provided 2017-11-24 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.