ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4064_4066delinsT (p.Asn1355fs)

dbSNP: rs1060502345
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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) RCV000661037 SCV000783282 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000458817 SCV000549361 pathogenic Hereditary breast ovarian cancer syndrome 2016-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). A different variant that causes a frameshift at the same codon, c.4065_4068del (p.Asn1355Lysfs*10), has been reported in many individuals and families with breast and/or ovarian cancer (PMID: 23199084). This sequence change deletes 3 nucleotides and inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.4064_4066delinsT), causing a frameshift at codon 1355. This creates a premature translational stop signal (p.Asn1355Lysfs*12) and is expected to result in an absent or disrupted protein product.

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.