ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1239dup (p.Pro414fs)

dbSNP: rs1561792535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001951367 SCV002240988 pathogenic Fanconi anemia complementation group E 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro414Serfs*54) in the FANCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCE are known to be pathogenic (PMID: 11001585, 17924555). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with personal and/or family history of breast and/or ovarian cancer (PMID: 27913932). ClinVar contains an entry for this variant (Variation ID: 1459995). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001951367 SCV004196808 likely pathogenic Fanconi anemia complementation group E 2023-04-19 criteria provided, single submitter clinical testing

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