ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3973del (p.Arg1325fs)

dbSNP: rs80357904
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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) RCV000112222 SCV000282320 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-04-22 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 RCV000112222 SCV000325804 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268513 SCV001447496 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354243 SCV002623088 pathogenic Hereditary cancer-predisposing syndrome 2019-11-19 criteria provided, single submitter clinical testing The c.3973delA variant, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3973, causing a translational frameshift with a predicted alternate stop codon (p.R1352Gfs*11). 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112222 SCV000144931 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2003-11-25 no assertion criteria provided clinical testing

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