NM_031263.4(HNRNPK):c.1192-14_1192-2del AND Au-Kline syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 31, 2020
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:: RCV001197488.2

Allele description [Variation Report for NM_031263.4(HNRNPK):c.1192-14_1192-2del]

NM_031263.4(HNRNPK):c.1192-14_1192-2del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

9q21.32

Genomic location:

Preferred name:

NM_031263.4(HNRNPK):c.1192-14_1192-2del

HGVS:

NC_000009.12:g.83970333_83970345del
NC_000009.12:g.83970334_83970346del
NG_029577.1:g.15310_15322del
NM_001318186.2:c.1120-14_1120-2del
NM_001318187.2:c.1120-14_1120-2del
NM_001318188.2:c.1192-14_1192-2del
NM_002140.5:c.1192-14_1192-2del
NM_031262.4:c.1192-14_1192-2del
NM_031263.4:c.1192-14_1192-2delMANE SELECT
NC_000009.11:g.86585249_86585261del
NM_002140.3:c.1192-14_1192-2delAAAAATCTTTTCA

Links:

dbSNP: rs1956767508

NCBI 1000 Genomes Browser:

rs1956767508

Molecular consequence:

NM_001318186.2:c.1120-14_1120-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001318187.2:c.1120-14_1120-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001318188.2:c.1192-14_1192-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_002140.5:c.1192-14_1192-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_031262.4:c.1192-14_1192-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_031263.4:c.1192-14_1192-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001368254	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 31, 2020)	unknown	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

SCV001368254

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 31, 2020)

unknown

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	unknown	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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001368254.2

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS2_MOD,PM2.

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

Last Updated: Jul 29, 2024

ClinVar

Relating variation to medicine