ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3916_3917del (p.Leu1306fs) (rs80357678)

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Total submissions: 9
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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) RCV000083200 SCV000300043 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 RCV000048379 SCV000076392 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1306Aspfs*23) 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 reported in the literature individuals with a BRCA1-related disease (PMID: 8808710, 20373018, 26187060, 25452441). This variant is also known as 4035delTT (L1306fs) in the literature. ClinVar contains an entry for this variant (Variation ID: 55049). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083200 SCV000325789 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563706 SCV000664800 pathogenic Hereditary cancer-predisposing syndrome 2017-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Mendelics RCV000048379 SCV000839244 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083200 SCV000115274 pathogenic Breast-ovarian cancer, familial 1 2012-10-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083200 SCV000144916 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000083200 SCV000583511 likely pathogenic Breast-ovarian cancer, familial 1 2016-11-02 no assertion criteria provided clinical testing This variant has previously been described as disease-causing for breast-ovarian cancer by De Benedetti et al. in 1996 and Zuradelli et al. in 2010 (HGMD professional 2015.3-PMID: 8808710 and 20373018). This variant has not been described by the Exome Sequencing Project, 1000 genome and ExAC. This variant has not been previously detected by CentoMD. However, this variant is been reported in two clinical entries in ClinVar as pathogenic. The patient presented with right breast cancer at 17 years of age, later she was detected with ovarian cancer at the age of 49 years which had metastasized to liver, peritoneum and brain. She passed away at the age of 56 years. Her two daughters of age 30 years and 26 years were also diagnosed to be heterozygous for the same mutation.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048379 SCV000587358 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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