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

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160661NYU Undiagnosed Diseases Program, NYU School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 30, 2019)
de novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 22, 2025