ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) (rs879255283)

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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) RCV000239167 SCV000300192 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239167 SCV000296433 likely pathogenic Breast-ovarian cancer, familial 1 2016-03-05 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000239167 SCV000326120 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000539566 SCV000636005 pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1684Tyrfs*10) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 252385). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000565393 SCV000661123 pathogenic Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing The c.5050_5051delAC pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5050 to 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1684Yfs*10). 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.

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