NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) 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:
RCV001256170.1

Allele description [Variation Report for NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)]

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

Gene:
DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
HGVS:
  • NC_000005.10:g.177512357GT[1]
  • NG_046846.1:g.9968CA[1]
  • NG_046846.2:g.9603CA[1]
  • NM_001321732.2:c.1208_1209del
  • NM_001321830.2:c.1208_1209del
  • NM_016222.4:c.1586_1587delMANE SELECT
  • NP_001308661.1:p.Thr403fs
  • NP_001308759.1:p.Thr403fs
  • NP_057306.2:p.Thr529fs
  • LRG_1386t1:c.1586_1587del
  • LRG_1386:g.9603CA[1]
  • LRG_1386p1:p.Thr529fs
  • NC_000005.9:g.176939358GT[1]
  • NM_016222.4:c.1586_1587delCAMANE SELECT
Protein change:
T403fs
Links:
Molecular consequence:
  • NM_001321732.2:c.1208_1209del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321830.2:c.1208_1209del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016222.4:c.1586_1587del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001432954Bone Marrow Failure laboratory,Queen Mary University Londonno assertion criteria providedLikely pathogenic
(Sep 1, 2020)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providedyesresearch

Citations

PubMed

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Cardoso SR, Ryan G, Walne AJ, Ellison A, Lowe R, Tummala H, Rio-Machin A, Collopy L, Al Seraihi A, Wallis Y, Page P, Akiki S, Fitzgibbon J, Vulliamy T, Dokal I.

Leukemia. 2016 Oct;30(10):2083-2086. doi: 10.1038/leu.2016.124. Epub 2016 Jun 2. No abstract available.

PubMed [citation]
PMID:
27133828
PMCID:
PMC5008455

Details of each submission

From Bone Marrow Failure laboratory,Queen Mary University London, SCV001432954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedyesresearch PubMed (1)

Description

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. Her daughter is an asymptomatic carrier of the variant. The following ACMG/AMP criteria were used: PVS1, PP3.

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

Last Updated: Jul 24, 2021

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