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NM_001081550.2(THOC2):c.3503+4A>C AND X-linked intellectual disability-short stature-overweight syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 2018
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:
RCV000664426.1

Allele description [Variation Report for NM_001081550.2(THOC2):c.3503+4A>C]

NM_001081550.2(THOC2):c.3503+4A>C

Gene:
THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq25
Genomic location:
Preferred name:
NM_001081550.2(THOC2):c.3503+4A>C
HGVS:
  • NC_000023.11:g.123623783T>G
  • NG_021468.1:g.114271A>C
  • NM_001081550.2:c.3503+4A>CMANE SELECT
  • NC_000023.10:g.122757634T>G
  • NM_001081550.1:c.3503+4A>C
Links:
dbSNP: rs1556015437
NCBI 1000 Genomes Browser:
rs1556015437
Molecular consequence:
  • NM_001081550.2:c.3503+4A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
X-linked intellectual disability-short stature-overweight syndrome (XLID12)
Synonyms:
MENTAL RETARDATION, X-LINKED 35; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12
Identifiers:
MONDO: MONDO:0010496; MedGen: C0796218; Orphanet: 457240; OMIM: 300957

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680068Sydney Children's Hospital, SCHN
no assertion criteria provided
Likely pathogenic
(Feb 2, 2018) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Sydney Children's Hospital, SCHN, SCV000680068.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023