ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.930del (p.Gln310fs) (rs80357689)

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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) RCV000111513 SCV000299508 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000111513 SCV000296381 pathogenic Breast-ovarian cancer, familial 1 2015-09-12 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111513 SCV000326466 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000480588 SCV000568430 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.930delG at the cDNA level and p.Gln310HisfsX4 (Q310HfsX4) at the protein level. The normal sequence, with the base that is deleted in braces, is AACA[G]CCTG. The deletion causes a frameshift, which changes a Glutamine to a Histidine at codon 310, 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. BRCA1 c.930delG, previously reported as 1049delG using alternate nomenclature, has been reported in at least two familial breast/ovarian cancer kindreds (Hakansson 1997, Arver 2001) and is considered pathogenic.
Ambry Genetics RCV000572042 SCV000661001 pathogenic Hereditary cancer-predisposing syndrome 2017-03-20 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) RCV000111513 SCV000143956 pathogenic Breast-ovarian cancer, familial 1 1999-04-12 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496273 SCV000587088 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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