ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)

dbSNP: rs587780802
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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) RCV000241500 SCV000300035 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000129410 SCV000184179 pathogenic Hereditary cancer-predisposing syndrome 2013-11-11 criteria provided, single submitter clinical testing ​The c.3874delT pathogenic mutation(also known as 3993delT), located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at position 3874, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241500 SCV000325777 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics, Oslo University Hospital RCV000241500 SCV000564313 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-07-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267866 SCV002550986 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing
Invitae RCV000123275 SCV000166582 pathogenic Hereditary breast ovarian cancer syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines. A more detailed explanation of the interpretation for this specific variant is forthcoming. This ClinVar entry will be updated at that time.
BRCAlab, Lund University RCV000241500 SCV004244022 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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