ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) (rs80357305)

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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) RCV000077569 SCV000300098 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 RCV000236776 SCV000292522 pathogenic not provided 2015-11-19 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.4258C>T at the cDNA level and p.Gln1420Ter (Q1420X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also published as c.4377C>T using alternate nomenclature, has been reported in multiple patients with breast or ovarian cancer (Thirthagiri 2008, Minucci 2015, Couch 2015). Based on currently available evidence, we consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077569 SCV000296323 pathogenic Breast-ovarian cancer, familial 1 2015-04-08 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077569 SCV000325908 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000077569 SCV000693534 pathogenic Breast-ovarian cancer, familial 1 2020-01-01 criteria provided, single submitter clinical testing This variant is a single amino acid change from Glutamine to a Termination codon at amino acid residue 1420 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. This variant is also known as c.4377C>T in the literature has been reported in patients with breast and/or ovarian cancer (PMID: 18627636, 26306726). The mutation database ClinVar contains entries for this variant (Variation ID: 55155).
Mendelics RCV000496798 SCV000839238 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022156 SCV001183856 pathogenic Hereditary cancer-predisposing syndrome 2018-04-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Institute of Genomics,University of Tartu RCV000077569 SCV001430698 pathogenic Breast-ovarian cancer, familial 1 criteria provided, single submitter research
Sharing Clinical Reports Project (SCRP) RCV000077569 SCV000109371 pathogenic Breast-ovarian cancer, familial 1 2013-04-24 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077569 SCV000145043 pathogenic Breast-ovarian cancer, familial 1 1999-06-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496798 SCV000587385 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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