ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5406+33A>T (rs80358092)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112635 SCV000244534 benign Breast-ovarian cancer, familial 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01224 (Asian), derived from 1000 genomes (2012-04-30).
Invitae RCV000048974 SCV000076987 benign Hereditary breast and ovarian cancer syndrome 2016-03-08 criteria provided, single submitter clinical testing
Counsyl RCV000112635 SCV000221020 likely benign Breast-ovarian cancer, familial 1 2015-01-13 criteria provided, single submitter literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455450 SCV000538429 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.9% (79/8420) East Asian chromosomes, 1 homozygote; ClinVar: 1 VUS, 1 LB
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000455450 SCV000602732 benign not specified 2016-01-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579582 SCV000683309 benign Hereditary cancer-predisposing syndrome 2015-02-23 criteria provided, single submitter clinical testing
Mendelics RCV000112635 SCV001140468 benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112635 SCV000145490 uncertain significance Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353975 SCV000591624 likely benign not provided no assertion criteria provided clinical testing The BRCA1 c.5406+33A>T variant was identified in ClinVar (Benign, reviewed by expert panel. Classified as B by ENIGMA, Invitae, LMM Partners HealthCare, Color, ARUP laboratories. Classified as LB by COGR, Counsyl. VUS by BIC) and dbSNP (rs80358092). The BRCA1 c.5406+33A>T variant was identified in control databases in 206 of 281744 chromosomes (1 homozygous) at a frequency of 0.0007312, and was observed at the highest frequency in the East Asian population in 181 of 19914 chromosomes (freq: 0.009089) (Genome Aggregation Database March 6, 2019, v2.1.1). The variant occurs outside of the splicing consensus sequence at a nucleotide that is not conserved in mammals, and in silico or computational prediction software programs (Splice AI exome) do not predict a deleterious effect on splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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.