ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2359dupG (p.Glu787Glyfs) (rs80357739)

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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) RCV000111834 SCV000299752 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047815 SCV000075828 pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-05 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.2359dupG), causing a frameshift at codon 787. This creates a premature translational stop signal (p.Glu787Glyfs*3) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in individuals with a personal and/or family history of breast/ovarian cancer (PMID: 10866028, 24549055, 22762150). This variant is also known as 2476insG in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000166731 SCV000217542 pathogenic Hereditary cancer-predisposing syndrome 2016-01-21 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 RCV000111834 SCV000325334 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111834 SCV000144392 pathogenic Breast-ovarian cancer, familial 1 2013-02-20 no assertion criteria provided clinical testing

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