ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3143del (p.Gly1048fs)

dbSNP: rs886040100
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Total submissions: 6
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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) RCV000257681 SCV000323568 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257681 SCV000325564 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509795 SCV000607975 pathogenic Hereditary cancer-predisposing syndrome 2018-07-09 criteria provided, single submitter clinical testing The c.3143delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3143, causing a translational frameshift with a predicted alternate stop codon (p.G1048Vfs*14). This pathogenic mutation was detected in one family undergoing BRCA1 and BRCA2 testing (Lecarpentier J et al. Breast Cancer Res. 2012;14:R99). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492022 SCV004240257 pathogenic Breast and/or ovarian cancer 2022-10-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999192 SCV005626067 pathogenic not provided 2024-06-13 criteria provided, single submitter clinical testing The BRCA1 c.3143del (p.Gly1048Valfs*14) variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals with breast cancer (BC) (PMIDs: 22762150 (2012), 32341426 (2020)) and in individuals with ovarian cancer (OC) (PMID: 36367610 (2023)). Based on the available information, this variant is classified as pathogenic.
BRCAlab, Lund University RCV000257681 SCV004244063 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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