ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)

gnomAD frequency: 0.00001  dbSNP: rs775517107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382198 SCV001580854 pathogenic Fanconi anemia 2023-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1267Thrfs*15) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). This variant is present in population databases (rs775517107, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1070165). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001531562 SCV001746756 likely pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001382198 SCV002529520 likely pathogenic Fanconi anemia 2021-12-15 criteria provided, single submitter curation
GeneDx RCV001531562 SCV002575628 likely pathogenic not provided 2022-03-25 criteria provided, single submitter clinical testing Identified as a heterozygous germline variant in a male with colorectal cancer, who was also heterozygous for a variant in FAM111B in the published literature (Bertelsen et al., 2019); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31263571)
Baylor Genetics RCV003462982 SCV004196718 likely pathogenic Fanconi anemia complementation group D2 2023-10-11 criteria provided, single submitter clinical testing

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