ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) (rs80357714)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
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) RCV000030988 SCV000299589 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 RCV000047447 SCV000075460 pathogenic Hereditary breast and ovarian cancer syndrome 2019-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe461Ilefs*19) 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 observed in individuals affected with breast cancer (PMID: 8808710, 23199084 24884479). This variant is also known as 1499insA in the literature. ClinVar contains an entry for this variant (Variation ID: 54226). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000214909 SCV000278204 pathogenic Hereditary cancer-predisposing syndrome 2018-04-12 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000030988 SCV000325053 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413703 SCV000492457 pathogenic Neoplasm of the breast criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000047447 SCV000698855 pathogenic Hereditary breast and ovarian cancer syndrome 2016-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000657162 SCV000778880 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.1380dupA at the cDNA level and p.Phe461IlefsX19 (F461IfsX19) at the protein level. The normal sequence, with the base that is duplicated in brackets, is AAAT[dupA]TTTG. The duplication causes a frameshift which changes a Phenylalanine to an Isoleucine at codon 461, and creates a premature stop codon at position 19 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.1380dupA, also reported as BRCA1 1499dupA, 1499insA, or c.1377_1378insA using alternate nomenclature, has been reported in association with Hereditary Breast and Ovarian Cancer and is a pathogenic founder variant in Italian populations (Stuppia 2003, Marroni 2008, Janavicius 2010, Pellegrino 2016). We consider this variant to be pathogenic.
Mendelics RCV000030988 SCV001140607 pathogenic Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Color RCV000214909 SCV001360140 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000030988 SCV000053580 pathogenic Breast-ovarian cancer, familial 1 2009-11-25 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000030988 SCV000144070 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047447 SCV000587125 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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.