ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs)

dbSNP: rs80357575
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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) RCV000112062 SCV000299918 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 RCV000112062 SCV000325611 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573186 SCV000660946 pathogenic Hereditary cancer-predisposing syndrome 2022-09-15 criteria provided, single submitter clinical testing The c.3326_3329delAAAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 3326 to 3329, causing a translational frameshift with a predicted alternate stop codon (p.K1109Sfs*7). This pathogenic mutation has been reported in multiple families with hereditary breast/ovarian cancer (Lecarpentier J et al. Breast Cancer Res., 2012 Jul;14:R99; Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). 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.
Color Diagnostics, LLC DBA Color Health RCV000573186 SCV000909308 pathogenic Hereditary cancer-predisposing syndrome 2020-12-30 criteria provided, single submitter clinical testing This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in multiple suspected hereditary breast and ovarian cancer families (PMID: 22762150, 27062684, 29446198). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV001380015 SCV001577940 pathogenic Hereditary breast ovarian cancer syndrome 2023-01-20 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: 54839). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 22762150, 27062684). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1109Serfs*7) 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) RCV000112062 SCV000144715 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing

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