NM_031263.4(HNRNPK):c.953+1dup AND Au-Kline syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 7, 2018
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:: RCV000195287.3

Allele description [Variation Report for NM_031263.4(HNRNPK):c.953+1dup]

NM_031263.4(HNRNPK):c.953+1dup

Gene:

HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q21.32

Genomic location:

Preferred name:

NM_031263.4(HNRNPK):c.953+1dup

HGVS:

NC_000009.12:g.83971886dup
NG_029577.1:g.13774dup
NM_001318186.2:c.881+1dup
NM_001318187.2:c.881+1dup
NM_001318188.2:c.953+1dup
NM_002140.5:c.953+1dup
NM_031262.4:c.953+1dup
NM_031263.4:c.953+1dupMANE SELECT
NC_000009.11:g.86586801dup
NM_002140.3:c.953+1dup
NM_002140.4:c.953+1dupG

Links:

OMIM: 600712.0001; dbSNP: rs863223402

NCBI 1000 Genomes Browser:

rs863223402

Molecular consequence:

NM_001318186.2:c.881+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001318187.2:c.881+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001318188.2:c.953+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_002140.5:c.953+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_031262.4:c.953+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_031263.4:c.953+1dup - splice donor variant - [Sequence Ontology: SO:0001575]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223814	Clinical Genetics Research Group, University of Calgary	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 7, 2018)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 26220823
SCV000249597	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223814

Clinical Genetics Research Group, University of Calgary

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 7, 2018)

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

SCV000249597

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2015)

germline

literature only

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

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

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM.

Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.

PubMed [citation]

PMID:: 26220823
PMCID:: PMC4575268

See all PubMed Citations (3)

Details of each submission

From Clinical Genetics Research Group, University of Calgary, SCV000223814.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

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

From OMIM, SCV000249597.1

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

Description

In a 17-year-old boy with Au-Kline syndrome (AUKS; 616580), Au et al. (2015) identified a de novo heterozygous 1-bp duplication (c.953+1dupC, NM_002140.3) in the HNRNPK gene between the +1 and +2 splice sites, which was predicted to alter gene expression either through nonsense-mediated mRNA decay or a frameshift and premature termination (Gly319ArgfsTer6). The mutation was found by exome sequencing, confirmed by Sanger sequencing, and filtered against the dbSNP database.

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

Last Updated: Jul 29, 2024

ClinVar

Relating variation to medicine