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NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 1, 2020)
Last evaluated:
Aug 28, 2020
Accession:
VCV000978203.1
Variation ID:
978203
Description:
2bp indel
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NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)

Allele ID
966330
Variant type
Indel
Variant length
2 bp
Cytogenetic location
5q35.3
Genomic location
5: 177514995 (GRCh38) GRCh38 UCSC
5: 176941996 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.177514995delinsCG
NC_000005.9:g.176941996delinsCG
NM_016222.4:c.719delinsCG MANE Select NP_057306.2:p.Ile240fs frameshift
... more HGVS
Protein change
I114fs, I240fs
Other names
-
Canonical SPDI
NC_000005.10:177514994:A:CG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 28, 2020 RCV001256168.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DDX41 - - GRCh38
GRCh37
72 135

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 28, 2020)
no assertion criteria provided
Method: research
Acute myeloid leukemia
Allele origin: unknown
Bone Marrow Failure laboratory,Queen Mary University London
Accession: SCV001432952.1
Submitted: (Sep 01, 2020)
Evidence details
Comment:
This heterozygous frameshift variant of DDX41 was identified in a 59-year old male with AML. His mother had AML but has not been tested. The … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. Cardoso SR Leukemia 2016 PMID: 27133828

Record last updated Jul 24, 2021