ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)

dbSNP: rs431825387
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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) RCV000083023 SCV000299623 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 RCV000083023 SCV000325102 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509742 SCV000607912 pathogenic Hereditary cancer-predisposing syndrome 2023-10-13 criteria provided, single submitter clinical testing The c.1579_1580delAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 1579 to 1580, causing a translational frameshift with a predicted alternate stop codon (p.K527Dfs*3). This alteration has been previously reported in at least 2 patients in association with hereditary breast and/or ovarian cancer (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620; Li JY et al. Int. J. Cancer. 2019 01;144:281-289). 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 RCV000509742 SCV000905206 pathogenic Hereditary cancer-predisposing syndrome 2020-12-28 criteria provided, single submitter clinical testing This variant deletes 2 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. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in an individual affected with breast cancer (PMID: 29752822) and a suspected hereditary breast and ovarian cancer family (PMID: 29446198). This variant has been identified in 1/250470 chromosomes 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268491 SCV001447461 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083023 SCV000115097 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2007-06-22 no assertion criteria provided clinical testing

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