NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His) AND Au-Kline syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2019
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:: RCV001009606.4

Allele description

NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His)

Genes:

HNRNPK-AS1:HNRNPK antisense RNA 1 [Gene - HGNC]
HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.32

Genomic location:

Preferred name:

NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His)

HGVS:

NC_000009.12:g.83972162A>G
NG_029577.1:g.13493T>C
NM_001318186.2:c.601T>C
NM_001318187.2:c.601T>C
NM_001318188.2:c.673T>C
NM_002140.5:c.673T>C
NM_031262.4:c.673T>C
NM_031263.4:c.673T>CMANE SELECT
NP_001305115.1:p.Tyr201His
NP_001305116.1:p.Tyr201His
NP_001305117.1:p.Tyr225His
NP_002131.2:p.Tyr225His
NP_112552.1:p.Tyr225His
NP_112553.1:p.Tyr225His
NC_000009.11:g.86587077A>G

Protein change:

Y201H

Links:

dbSNP: rs1588417800

NCBI 1000 Genomes Browser:

rs1588417800

Molecular consequence:

NM_001318186.2:c.601T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001318187.2:c.601T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001318188.2:c.673T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002140.5:c.673T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031262.4:c.673T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031263.4:c.673T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Condition(s)

Name:: Au-Kline syndrome
Synonyms:: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation; Okamoto syndrome
Identifiers:: MONDO: MONDO:0014700; MedGen: C4225274; Orphanet: 2729; Orphanet: 453499; Orphanet: 453504; OMIM: 616580

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001160661	NYU Undiagnosed Diseases Program, NYU School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 30, 2019)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001160661

NYU Undiagnosed Diseases Program, NYU School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 30, 2019)

de novo

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	de novo	yes	1	not provided	not provided	not provided	not provided	research

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 NYU Undiagnosed Diseases Program, NYU School of Medicine, SCV001160661.1

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

Description

This de novo mutation causes a missense change of Tyr225His (NP_112553.1). It is absent from the Genome Aggregation Database (gnomAD), and multiple In silico algorithms predict this variant to be deleterious and damaging to protein structure and/or function.

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

Last Updated: Mar 22, 2025

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