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NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs) AND Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 13, 2022
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:
RCV002291257.1

Allele description [Variation Report for NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs)]

NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs)

Gene:
HNRNPR:heterogeneous nuclear ribonucleoprotein R [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs)
HGVS:
  • NC_000001.11:g.23310761dup
  • NM_001102397.3:c.1297dup
  • NM_001102398.3:c.1609dup
  • NM_001102399.3:c.1306dup
  • NM_001297620.2:c.1486dup
  • NM_001297621.2:c.1120dup
  • NM_001297622.2:c.1183dup
  • NM_005826.5:c.1600dupMANE SELECT
  • NP_001095867.1:p.Ala433fs
  • NP_001095868.1:p.Ala537fs
  • NP_001095869.1:p.Ala436fs
  • NP_001284549.1:p.Ala496fs
  • NP_001284550.1:p.Ala374fs
  • NP_001284551.1:p.Ala395fs
  • NP_005817.1:p.Ala534fs
  • NC_000001.10:g.23637254dup
  • NM_001102398.2:c.1609dupG
Protein change:
A374fs
Links:
OMIM: 607201.0001
Molecular consequence:
  • NM_001102397.3:c.1297dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001102398.3:c.1609dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001102399.3:c.1306dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001297620.2:c.1486dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001297621.2:c.1120dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001297622.2:c.1183dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005826.5:c.1600dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB)
Identifiers:
MONDO: MONDO:0859297; MedGen: C5774231; OMIM: 620073

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002583574OMIM
no assertion criteria provided
Pathogenic
(Oct 13, 2022) 		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

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW.

Am J Hum Genet. 2019 Jun 6;104(6):1040-1059. doi: 10.1016/j.ajhg.2019.03.024. Epub 2019 May 9.

PubMed [citation]
PMID:
31079900
PMCID:
PMC6556882

Details of each submission

From OMIM, SCV002583574.1

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

Description

In a 12-year-old girl (P1) with neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB; 620073), Duijkers et al. (2019) identified a de novo heterozygous 1-bp duplication (c.1609dupG, NM_001102398.2) in the last exon of the HNRNPR gene, predicted to result in a frameshift and premature termination (Ala537GlyfsTer10) in the C-terminal RGG domain. The mutation, which was found by whole-exome sequencing, was not present in the ExAC or gnomAD databases. Studies of patient cells indicated that a truncated protein was produced, suggesting an escape from nonsense-mediated mRNA decay.

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

Last Updated: Sep 16, 2024