NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) AND Neurodevelopmental disorders

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001261683.2

Allele description [Variation Report for NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser)]

NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser)

Gene:

DHX34:DExH-box helicase 34 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser)

HGVS:

NC_000019.10:g.47360017A>G
NM_014681.6:c.1322A>GMANE SELECT
NP_055496.2:p.Asn441Ser
NC_000019.9:g.47863274A>G
NM_014681.5:c.1322A>G

Protein change:

N441S

Links:

dbSNP: rs549149043

NCBI 1000 Genomes Browser:

rs549149043

Molecular consequence:

NM_014681.6:c.1322A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental disorders
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001438988	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438988

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

inherited

research

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	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, et al.

Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.

PubMed [citation]

PMID:: 31256877
PMCID:: PMC6698803

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001438988.1

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

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

Last Updated: Dec 24, 2023

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