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HNRNPK, 2-BP, 931TT (SCV000258957) AND AU-KLINE SYNDROME

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 2019
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:
RCV000762791.1

Allele description

HNRNPK, 2-BP, 931TT (SCV000258957)

Gene:
HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]
Variant type:
Variation
Cytogenetic location:
9q21.32
Preferred name:
HNRNPK, 2-BP, 931TT (SCV000258957)
Links:
OMIM: 600712.0003

Condition(s)

Name:
AU-KLINE SYNDROME (AUKS)
Identifiers:
MedGen: C4225274; Orphanet: 453499; Orphanet: 453504; OMIM: 616580

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000893138OMIM
no assertion criteria provided
Pathogenic
(Mar 26, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U.

Clin Genet. 2016 Sep;90(3):258-62. doi: 10.1111/cge.12773. Epub 2016 Apr 1.

PubMed [citation]
PMID:
26954065
PMCID:
PMC5006848

Details of each submission

From OMIM, SCV000893138.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Using trio-based whole-exome sequencing, Lange et al. (2016) identified a de novo heterozygous 2-bp insertion (c.931_932insTT) in exon 11 of the HNRNPK gene in a boy (BRC052) with Au-Kline syndrome (AUKS; 616580). The insertion was predicted to result in a frameshift (Pro31LeufsTer40) two-thirds through the coding sequence and was expected to result in a loss of function. The variant, which was confirmed by Sanger sequencing, was not present in the ExAC or 1000 Genomes Project databases.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 31, 2019