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NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)

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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:
VCV000978209.1
Variation ID:
978209
Description:
single nucleotide variant
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NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)

Allele ID
966335
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q35.3
Genomic location
5: 177516444 (GRCh38) GRCh38 UCSC
5: 176943445 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.177516444G>A
NC_000005.9:g.176943445G>A
NM_016222.4:c.142C>T MANE Select NP_057306.2:p.Gln48Ter nonsense
... more HGVS
Protein change
Q48*
Other names
-
Canonical SPDI
NC_000005.10:177516443:G:A
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 RCV001256176.1

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: unknown
Bone Marrow Failure laboratory,Queen Mary University London
Accession: SCV001432960.1
Submitted: (Sep 01, 2020)
Evidence details
Comment:
This heterozygous stop-gain variant of DDX41 was identified in a 54-year old male with AML. His father and two paternal uncles died of leukemia but … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jul 24, 2021