NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp) AND DDX41-related hematologic malignancy predisposition syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 30, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003224841.1

Allele description [Variation Report for NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp)]

NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp)

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.1589G>A (p.Gly530Asp)

HGVS:

NC_000005.10:g.177512354C>T
NG_046846.2:g.9608G>A
NM_001321732.2:c.1211G>A
NM_001321830.2:c.1211G>A
NM_016222.2:c.1589G>A
NM_016222.4:c.1589G>AMANE SELECT
NP_001308661.1:p.Gly404Asp
NP_001308759.1:p.Gly404Asp
NP_057306.2:p.Gly530Asp
LRG_1386t1:c.1589G>A
LRG_1386:g.9608G>A
LRG_1386p1:p.Gly530Asp
NC_000005.9:g.176939355C>T
NM_016222.3:c.1589G>A

Protein change:

G404D

Molecular consequence:

NM_001321732.2:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321830.2:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016222.4:c.1589G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003920860	Clinical Genomics Labs, University Health Network	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance (Oct 30, 2019)	germline	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

SCV003920860

Clinical Genomics Labs, University Health Network

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 30, 2019)

germline

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

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, SCV003920860.1

#	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

Last Updated: Oct 8, 2024

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