ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) (rs80359880)

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Total submissions: 12
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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) RCV000077481 SCV000299536 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000165309 SCV000216031 pathogenic Hereditary cancer-predisposing syndrome 2018-03-21 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Michigan Medical Genetics Laboratories,University of Michigan RCV000077481 SCV000267689 pathogenic Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000254901 SCV000322183 pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing This deletion of 11 nucleotides is denoted BRCA1 c.1082_1092del11 at the cDNA level and p.Ser361Ter (S361X) at the protein level. The normal sequence, with the bases that are deleted in braces, is TGCT[del11]AGAG. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAG). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.1082_1092del11, previously reported as 1201del11, has been reported in several kindreds with early-onset breast and/or ovarian cancer diagnoses and is thought to be a founder variant in the Swedish population (Shattuck-Eidens 1995, Johannsson 1996, Loman 2001, Malander 2004, Borg 2010). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077481 SCV000324948 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507754 SCV000602678 pathogenic not specified 2019-01-05 criteria provided, single submitter clinical testing The BRCA1 c.1082_1092del11; p.Ser361Ter variant (rs80359880), also known as 1201del11, is reported in the literature in multiple individuals affected with early-onset breast and/or ovarian cancer, and is thought to be a founder variant in Sweden (Borg 2010, Janavicius 2010, Johannsson 1996, Loman 2001, Malander 2004, Shattuck-Eidens 1995). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 54122), and is only observed on three alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Borg A et al. Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Hum Mutat. 2010 Mar;31(3):E1200-40. Janavicius R et al. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010 Sep;1(3):397-412. Johannsson O et al. Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet. 1996 Mar;58(3):441-50. Loman N et al. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst. 2001 Aug 15;93(16):1215-23. Malander S et al. One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur J Cancer. 2004 Feb;40(3):422-8. Shattuck-Eidens D et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA. 1995 273(7):535-41.
Counsyl RCV000077481 SCV000785418 pathogenic Breast-ovarian cancer, familial 1 2017-07-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254901 SCV000888831 pathogenic not provided 2017-12-11 criteria provided, single submitter clinical testing
Color RCV000165309 SCV000904685 pathogenic Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077481 SCV000109279 pathogenic Breast-ovarian cancer, familial 1 2012-08-14 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077481 SCV000144001 pathogenic Breast-ovarian cancer, familial 1 2013-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496348 SCV000587100 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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