ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1488del (p.Leu498fs)

dbSNP: rs587782251
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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) RCV000240989 SCV000299606 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.
Ambry Genetics RCV000130960 SCV000185875 pathogenic Hereditary cancer-predisposing syndrome 2024-09-27 criteria provided, single submitter clinical testing The c.1488delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1488, causing a translational frameshift with a predicted alternate stop codon (p.L498Sfs*5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000240989 SCV000325080 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001849938 SCV002126367 pathogenic Hereditary breast ovarian cancer syndrome 2020-11-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This frameshift has been observed in individual(s) with breast and/or ovarian cancer (PMID: 8880569). ClinVar contains an entry for this variant (Variation ID: 142122). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu498Serfs*5) 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).
Baylor Genetics RCV000240989 SCV004215157 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-04-19 criteria provided, single submitter clinical testing

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