ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3779del (p.Leu1260fs)

dbSNP: rs80357798
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112182 SCV000300018 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112182 SCV000325754 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574583 SCV000661042 pathogenic Hereditary cancer-predisposing syndrome 2016-06-08 criteria provided, single submitter clinical testing The c.3779delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3779, causing a translational frameshift with a predicted alternate stop codon. This alteration has been previously reported in multiple high-risk individuals and families with breast and/or ovarian cancer (Shattuck-Eidens D et al. JAMA 1995 Feb; 273(7):535-41; Stavropoulou AV et al. PLoS ONE 2013 Mar; 8(3):e58182; Kluska A et al. BMC Med Genomics 2015 May; 8:19; Gaj P et al. Fam. Cancer 2012 Dec;11(4):623-8). Of note, this alteration is also designated as c.3777delT and 3896delT in the published literature. In addition to the clinical data presented in the literature, 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268404 SCV001447313 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112182 SCV000144877 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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