ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2835dupT (p.Ile946Tyrfs) (rs80357519)

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Total submissions: 7
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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) RCV000111948 SCV000299842 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000221882 SCV000275764 pathogenic Hereditary cancer-predisposing syndrome 2015-05-17 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 RCV000111948 SCV000325473 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484231 SCV000568417 pathogenic not provided 2016-08-05 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.2835dupT at the cDNA level and p.Ile946TyrfsX6 (I946YfsX6) at the protein level. The normal sequence, with the base that is duplicated in braces, is GTAG[T]ATCA. The duplication causes a frameshift which changes an Isoleucine to a Tyrosine at codon 946, and creates a premature stop codon at position 6 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.2835dupT, previously reported as BRCA1 2954insT using alternate nomenclature, has been reported in an individual undergoing genetic testing due to familial risk of breast and/or ovarian cancer (Shattuck-Eidens 1997). We consider this variant to be pathogenic.
Color RCV000221882 SCV000909331 pathogenic Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111948 SCV000144559 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496248 SCV000587257 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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