ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) (rs80357896)

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Total submissions: 11
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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
Color Health, Inc RCV000582738 SCV000688533 pathogenic Hereditary cancer-predisposing syndrome 2021-01-21 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 16 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals and families affected with breast and hereditary cancer (PMID: 21156238, 22752604, 22874498, 26911350, 27553291, 31528241; UMD database). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV001386105 SCV001586211 pathogenic Hereditary breast and ovarian cancer syndrome 2020-10-21 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 16 of the BRCA1 mRNA (c.5035delC), creating a premature translational stop signal at codon 1679 (p.Leu1679*) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in patients and families affected with breast and ovarian cancer (PMID: 21156238, 22752604, 22874498, 26911350). This variant is also known as 5154delC in the literature. For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV001663981 SCV001879062 pathogenic Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2013-12-01 criteria provided, single submitter curation
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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000497274 SCV000591563 uncertain significance not provided no assertion criteria provided clinical testing

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