ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) (rs80357896)

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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) RCV000112469 SCV000300188 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000497274 SCV000210054 pathogenic not provided 2014-07-11 criteria provided, single submitter clinical testing This deletion of one nucleotide is denoted BRCA1 c.5035delC at the cDNA level and p.Leu1679Ter (L1679X) at the protein level. The normal sequence, with the base that is deleted in brackets, is TTAT[C]TAAT. The deletion causes a frameshift resulting in a nonsense variant, which changes a Leucine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.5035delC, also published as BRCA1 c.5154delC using alternate nomenclature, has been observed in cases of familial breast cancer (Juwle 2012, Manguoglu 2010).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112469 SCV000296459 pathogenic Breast-ovarian cancer, familial 1 2016-04-23 criteria provided, single submitter clinical testing
GeneKor MSA RCV000238807 SCV000296804 pathogenic not specified 2016-07-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112469 SCV000326114 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500543 SCV000591563 pathogenic Hereditary breast and ovarian cancer syndrome 2016-02-10 criteria provided, single submitter clinical testing
Color RCV000582738 SCV000688533 pathogenic Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112469 SCV000145269 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112469 SCV000297617 pathogenic Breast-ovarian cancer, familial 1 2010-11-17 no assertion criteria provided clinical testing

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