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NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 1, 2020)
Last evaluated:
Sep 1, 2020
Accession:
VCV000978204.1
Variation ID:
978204
Description:
2bp microsatellite
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NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)

Allele ID
966328
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
5q35.3
Genomic location
5: 177512356-177512357 (GRCh38) GRCh38 UCSC
5: 176939357-176939358 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.177512357GT[1]
NC_000005.9:g.176939358GT[1]
NM_016222.4:c.1586_1587del MANE Select NP_057306.2:p.Thr529fs frameshift
... more HGVS
Protein change
T403fs, T529fs
Other names
-
Canonical SPDI
NC_000005.10:177512355:TGTGT:TGT
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
Likely pathogenic 1 no assertion criteria provided Sep 1, 2020 RCV001256170.1

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
Likely pathogenic
(Sep 01, 2020)
no assertion criteria provided
Method: research
Acute myeloid leukemia
Allele origin: germline
Bone Marrow Failure laboratory,Queen Mary University London
Accession: SCV001432954.1
Submitted: (Sep 01, 2020)
Evidence details
Comment:
This heterozygous frameshift variant of DDX41 was identified in a 58-year old female with AML. Her mother had refractory anemia but has not been tested. … (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