ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)

dbSNP: rs1553622530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yang An-Suei Laboratory, Academia Sinica RCV000504616 SCV000583425 pathogenic Breast neoplasm criteria provided, single submitter clinical testing
Invitae RCV002527116 SCV003460738 pathogenic Familial cancer of breast 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp218*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant is not present in population databases (gnomAD no frequency). 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: 29566657). ClinVar contains an entry for this variant (Variation ID: 430590). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003488634 SCV004238493 likely pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing

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