ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.851_852del (p.Gln284fs)

dbSNP: rs80357719
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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) RCV000112805 SCV000299492 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507004 SCV000600443 pathogenic not provided 2017-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017936 SCV001179104 pathogenic Hereditary cancer-predisposing syndrome 2019-06-17 criteria provided, single submitter clinical testing The c.851_852delAG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 851 to 852, causing a translational frameshift with a predicted alternate stop codon (p.Q284Pfs*2). 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.
Invitae RCV002513671 SCV003498268 pathogenic Hereditary breast ovarian cancer syndrome 2023-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 55740). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln284Profs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112805 SCV000145706 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing

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