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NM_016111.4(TELO2):c.238C>A (p.His80Asn) AND TELO2-related intellectual disability-neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2023
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:
RCV003153880.1

Allele description [Variation Report for NM_016111.4(TELO2):c.238C>A (p.His80Asn)]

NM_016111.4(TELO2):c.238C>A (p.His80Asn)

Gene:
TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_016111.4(TELO2):c.238C>A (p.His80Asn)
HGVS:
  • NC_000016.10:g.1494519C>A
  • NG_050910.1:g.6176C>A
  • NM_001351846.2:c.238C>A
  • NM_016111.4:c.238C>AMANE SELECT
  • NP_001338775.1:p.His80Asn
  • NP_057195.2:p.His80Asn
  • NC_000016.9:g.1544520C>A
  • NC_000016.9:g.1544520C>A
  • NM_016111.3:c.238C>A
Protein change:
H80N
Links:
dbSNP: rs199863486
NCBI 1000 Genomes Browser:
rs199863486
Molecular consequence:
  • NM_001351846.2:c.238C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016111.4:c.238C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TELO2-related intellectual disability-neurodevelopmental disorder
Synonyms:
You-Hoover-Fong syndrome
Identifiers:
MONDO: MONDO:0014848; MedGen: C4310778; OMIM: 616954

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842305Pediatrics, Sichuan Provincial Hospital For Women And Children
no assertion criteria provided
Uncertain significance
(Jan 20, 2023) 		maternalprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedprovider interpretation

Details of each submission

From Pediatrics, Sichuan Provincial Hospital For Women And Children, SCV003842305.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedprovider interpretationnot provided

Description

The proband, female, has global developmental lag, is 2 years old, cannot stand alone, cannot speak, has postural instability, and has hearing loss

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024