ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs)

dbSNP: rs1060505051
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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) RCV000477785 SCV000783351 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Department of Medical Genetics, Oslo University Hospital RCV000477785 SCV000564380 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-02-01 criteria provided, single submitter clinical testing
Yang An-Suei Laboratory, Academia Sinica RCV000504599 SCV000583407 pathogenic Breast neoplasm criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985405 SCV001133562 pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Invitae RCV003644985 SCV004539031 pathogenic Hereditary breast ovarian cancer syndrome 2023-03-20 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: 417831). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 29339979, 29566657). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asn1215Ilefs*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).

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