ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4799dup (p.Leu1600fs)

dbSNP: rs587782392
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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241117 SCV000300162 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131402 SCV000186378 pathogenic Hereditary cancer-predisposing syndrome 2013-08-20 criteria provided, single submitter clinical testing ​The c.4799dupT pathogenic mutation (also known as c.4799_4800insTand 4918insT), located in coding exon 14 of the BRCA1 gene, results from the insertion of 1 nucleotide causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV000823431 SCV000964291 pathogenic Hereditary breast ovarian cancer syndrome 2021-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1600Phefs*22) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 142334). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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.