NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) AND Acute myeloid leukemia

Clinical significance:Likely pathogenic (Last evaluated: Sep 1, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001256176.1

Allele description [Variation Report for NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)]

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

Gene:
DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
HGVS:
  • NC_000005.10:g.177516444G>A
  • NG_046846.1:g.5883C>T
  • NG_046846.2:g.5518C>T
  • NM_001321732.2:c.-237C>T
  • NM_001321830.2:c.-237C>T
  • NM_016222.4:c.142C>TMANE SELECT
  • NP_057306.2:p.Gln48Ter
  • LRG_1386t1:c.142C>T
  • LRG_1386:g.5518C>T
  • LRG_1386p1:p.Gln48Ter
  • NC_000005.9:g.176943445G>A
Protein change:
Q48*
Molecular consequence:
  • NM_001321732.2:c.-237C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321830.2:c.-237C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016222.4:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001432960Bone Marrow Failure laboratory,Queen Mary University Londonno assertion criteria providedLikely pathogenic
(Sep 1, 2020)
unknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providedyesresearch

Details of each submission

From Bone Marrow Failure laboratory,Queen Mary University London, SCV001432960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedyesresearchnot provided

Description

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 have not been tested. The following ACMG/AMP criteria were used: PVS1, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedperipheral bloodnot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2021

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