ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.144del (p.Met48fs)

dbSNP: rs80357682
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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) RCV000111883 SCV000299414 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 RCV000111883 SCV000325074 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000111883 SCV004188825 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-09-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987341 SCV004803501 pathogenic Hereditary breast ovarian cancer syndrome 2024-01-17 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.144delG (p.Met48IlefsX2) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 250126 control chromosomes (gnomAD). c.144delG has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Figlioli_2021). The following publication has been ascertained in the context of this evaluation (PMID: 33573335). ClinVar contains an entry for this variant (Variation ID: 54256). Based on the evidence outlined above, the variant was classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111883 SCV000144465 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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