ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2488_2497dup (p.Leu833Ter)

dbSNP: rs397508973
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Total submissions: 5
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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) RCV000256693 SCV000323466 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256693 SCV000325373 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484003 SCV000564727 pathogenic not provided 2015-06-26 criteria provided, single submitter clinical testing This duplication of 10 nucleotides is denoted BRCA1 c.2488_2497dup10 at the cDNA level and p.Leu833Ter (L833X) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is CTTT[AAGTATCCAT]TGGG. The duplication creates 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 2488_2497dup10, also reported as 2607_2616dup10 using alternate nomenclature, has been observed in multiple Czech breast and/or ovarian cancer families from the (Foretova 2004, Machackova 2008, Konecky 2011). This variant is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000256693 SCV000144459 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2005-09-27 no assertion criteria provided clinical testing
CZECANCA consortium RCV001270972 SCV001451777 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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