ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.895_896del (p.Val299fs) (rs80357670)

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Total submissions: 9
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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) RCV000111504 SCV000299499 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 RCV000497269 SCV000210006 pathogenic not provided 2018-05-07 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA1 is denoted c.895_896delGT at the cDNA level and p.Val299ArgfsX4 (V299RfsX4) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GAAT[delGT]AGAA. The deletion causes a frameshift, which changes a Valine to an Arginine at codon 299, and creates a premature stop codon at position 4 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. This variant, also reported as BRCA1 1014_1015delGT using alternate nomenclature, has been reported in at least two kindreds with breast and ovarian cancer (Couch 1997, Martin 2001). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111504 SCV000326454 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496954 SCV000591308 pathogenic Hereditary breast and ovarian cancer syndrome 2014-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573914 SCV000665798 pathogenic Hereditary cancer-predisposing syndrome 2018-02-28 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)
Color RCV000573914 SCV000683375 pathogenic Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111504 SCV000143946 pathogenic Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496954 SCV000587085 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735523 SCV000863661 pathogenic Breast and/or ovarian cancer 2013-09-20 no assertion criteria provided clinical testing

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