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NM_019597.5(HNRNPH2):c.460del (p.Glu154fs) AND Intellectual disability, X-linked, syndromic, Bain type

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 4, 2022
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:
RCV002287599.2

Allele description [Variation Report for NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)]

NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)
HGVS:
  • NC_000023.11:g.101412448del
  • NG_007119.1:g.519del
  • NG_016327.1:g.9246del
  • NM_001032393.3:c.460del
  • NM_001199973.2:c.*456del
  • NM_001199974.2:c.*456del
  • NM_019597.5:c.460delMANE SELECT
  • NP_001027565.1:p.Glu154fs
  • NP_062543.1:p.Glu154fs
  • LRG_672:g.519del
  • NC_000023.10:g.100667436del
Protein change:
E154fs
Molecular consequence:
  • NM_001199973.2:c.*456del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001199974.2:c.*456del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001032393.3:c.460del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_019597.5:c.460del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Intellectual disability, X-linked, syndromic, Bain type (MRXSB)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE
Identifiers:
MONDO: MONDO:0010512; MedGen: C4310814; OMIM: 300986

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002577693Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)		Likely pathogenic
(Oct 4, 2022) 		maternalclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV002577693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

PVS1_strong;PM2_supporting;PM3_supporting

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

Last Updated: Sep 16, 2024