NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) AND DDX41-related hematologic malignancy predisposition syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 9, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003224810.2

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_046846.2:g.9603CA[1]
NM_001321732.2:c.1208_1209del
NM_001321830.2:c.1208_1209del
NM_016222.3:c.1586_1587delCA
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.176939357_176939358del
NC_000005.9:g.176939358GT[1]
NG_046846.1:g.9968CA[1]
NM_016222.2:c.1586_1587del
NM_016222.4:c.1586_1587del
NM_016222.4:c.1586_1587delCAMANE SELECT

Protein change:

T403fs

Links:

dbSNP: rs866179648

NCBI 1000 Genomes Browser:

rs866179648

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:: DDX41-related hematologic malignancy predisposition syndrome
Synonyms:: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
Identifiers:: MONDO: MONDO:0014809; MedGen: C4225174; OMIM: 616871

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003920871	Clinical Genomics Labs, University Health Network	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Feb 16, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004190941	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 9, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003920871

Clinical Genomics Labs, University Health Network

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Feb 16, 2021)

germline

clinical testing

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

SCV004190941

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 9, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Clinical Genomics Labs, University Health Network, SCV003920871.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004190941.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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