ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) (rs80357888)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131841 SCV000186896 pathogenic Hereditary cancer-predisposing syndrome 2017-11-14 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)
Breast Cancer Information Core (BIC) (BRCA1) RCV000030998 SCV000144114 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131841 SCV000682968 pathogenic Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000030998 SCV000325084 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000030998 SCV000677638 pathogenic Breast-ovarian cancer, familial 1 2017-05-02 criteria provided, single submitter clinical testing
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505582 SCV000599904 other Dysgerminoma 2016-05-01 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000030998 SCV000282260 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000047499 SCV000210014 pathogenic not provided 2019-01-21 criteria provided, single submitter clinical testing This deletion of 5 nucleotides is denoted BRCA1 c.1504_1508delTTAAA at the cDNA level and p.Leu502AlafsX2 (L502AfsX2) at the protein level. The normal sequence, with the bases that are deleted in braces, is TAAA[TTAAA]GCGT. The deletion causes a frameshift, which changes a Leucine to an Alanine at codon 502, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.1504_1508delTTAAA, previously reported as 1623del5, has been reported in association with breast and ovarian cancer (Peelen 1997, Konstantopoulou 2000, Ellingson 2015, Laraqui 2015, Riahi 2015). We consider this variant to be pathogenic.
GeneKor MSA RCV000585713 SCV000693509 pathogenic Familial cancer of breast 2018-08-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000030998 SCV000746295 pathogenic Breast-ovarian cancer, familial 1 2017-12-03 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000210987 SCV000267856 pathogenic Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Invitae RCV000210987 SCV000075512 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu502Alafs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80357888, ExAC 0.01%). This variant has been reported in individuals and families affected with breast and/or ovarian cancer (PMID: 9150151, 23479189, 23536787, 20104584, 24372583 26296701). This variant is also known as 1623del5 in the literature. ClinVar contains an entry for this variant (Variation ID: 37417). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000030998 SCV000296339 pathogenic Breast-ovarian cancer, familial 1 2015-07-10 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000210987 SCV000587143 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000030998 SCV000053590 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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