ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1904-12T>G

gnomAD frequency: 0.00001  dbSNP: rs774178253
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238357 SCV002009147 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001762614 SCV002416903 likely benign Familial cancer of breast 2024-12-10 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357566 SCV001553072 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The BARD1 c.1904-12T>G variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, or Zhejiang University databases. The variant was identified in dbSNP (ID: rs774178253). The variant was identified in control databases in 1 of 120770 chromosomes at a frequency of 0. 000008 (Exome Aggregation Consortium, August 8th 2016), specifically in the European population in 1 of 66366 chromosomes (freq: 0. 00002), while the variant was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The c.1904-12T>G variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. In addition, 3 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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.