ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+401del (rs397508845)

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) RCV000241521 SCV000299554 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000225758 SCV000075387 pathogenic Hereditary breast and ovarian cancer syndrome 2015-11-05 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 10 of the BRCA1 mRNA (c.1188delT), causing a frameshift at codon 396. This creates a premature translational stop signal (p.Asp396Glufs*14) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). This particular truncation has been reported in a 43 year old woman of Indian origin with a personal history of breast cancer and a family history of ovarian cancer (PMID: 17131039). This variant is also known as 1307delT in the literature. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000047374 SCV000210009 pathogenic not provided 2015-04-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.1188delT at the cDNA level and p.Asp396GlufsX14 (D396EfsX14) at the protein level. The normal sequence with the bases that are deleted in brackets is CTGA[T]GACT. This deletion is also known as BRCA1 1307delT using alternate nomenclature. The deletion causes a frameshift, changing an Aspartic Acid to a Glutamic Acid at codon 396, and creating a premature stop codon at position 14 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.1188delT has been observed in at least one patient of Indian descent with a clinical history consistent with hereditary breast and/or ovarian cancer (Gajalakshmi 2007). we consider this variant to be 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.