ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs)

dbSNP: rs80357649
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Total submissions: 4
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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) RCV000112292 SCV000300090 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112292 SCV000325892 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022019 SCV001183707 pathogenic Hereditary cancer-predisposing syndrome 2023-03-30 criteria provided, single submitter clinical testing The c.4195_4196delAC pathogenic mutation, located in coding exon 11 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 4195 to 4196, causing a translational frameshift with a predicted alternate stop codon (p.T1399Hfs*4). This mutation, designated 4314_4315delAC, has been reported in 1/624 Spanish patients and families with breast and/or ovarian cancer (Díez O et al. Hum. Mutat., 2003 Oct;22:301-12). 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112292 SCV000145024 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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