ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) (rs80357848)

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Total submissions: 10
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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) RCV000031126 SCV000300011 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 RCV000048324 SCV000076337 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-03 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.3764dupA), causing a frameshift at codon 1255. This creates a premature translational stop signal (p.Asn1255LysfsTer12) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in two individuals affected with breast cancer (PMID: 9150171, 26681312). This variant is also known as 3883insA in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000129813 SCV000184627 pathogenic Hereditary cancer-predisposing syndrome 2016-08-09 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031126 SCV000325749 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508668 SCV000605850 pathogenic not provided 2016-12-08 criteria provided, single submitter clinical testing
Color RCV000129813 SCV000905031 pathogenic Hereditary cancer-predisposing syndrome 2018-08-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031126 SCV000053725 pathogenic Breast-ovarian cancer, familial 1 2010-02-12 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031126 SCV000144869 pathogenic Breast-ovarian cancer, familial 1 1997-11-14 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048324 SCV000587346 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735452 SCV000863589 pathogenic Breast and/or ovarian cancer 2010-01-20 no assertion criteria provided clinical testing

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