VCV000236230.4 - ClinVar

NM_016111.3(TELO2):c.[514C>T;2034+1G>A]

Germline

Classification

criteria provided, single submitter. Learn more about how ClinVar calculates review status.

Pathogenic

1 out of 2 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This haplotype includes the following variants

NM_016111.3(TELO2):c.[514C>T;2034+1G>A]

Other names: TELO2, GLN172TER AND IVS16DS, G-A, +1
Functional consequence: -
Links: OMIM: 611140.0006

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TELO2		-	-	GRCh38 GRCh37	547	610

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
TELO2-related intellectual disability-neurodevelopmental disorder	Pathogenic (2)	criteria provided, single submitter	-	RCV000225207.7

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (-) C Contributing to aggregate classification	criteria provided, single submitter (Submitter's publication) Method: research	TELO2-related intellectual disability-neurodevelopmental disorder Affected status: yes Allele origin: germline	Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine Accession: SCV000298029.1 First in ClinVar: Aug 29, 2016 Last updated: Aug 29, 2016	Publications: PubMed (1) PubMed: 27132593 Number of individuals with the variant: 1 Zygosity: Compound Heterozygote
Pathogenic (Sep 10, 2019) N Not contributing to aggregate classification	no assertion criteria provided Method: literature only	YOU-HOOVER-FONG SYNDROME Affected status: not provided Allele origin: germline	OMIM Accession: SCV000282071.2 First in ClinVar: Jun 25, 2016 Last updated: Sep 16, 2019	Publications: PubMed (1) PubMed: 27132593 Comment on evidence: For discussion of a complex allele containing 2 mutations in cis in the TELO2 gene, a c.514C-T transition (c.514C-T, NM_016111.3), resulting in a gln172-to-ter (Q172X) … (more) For discussion of a complex allele containing 2 mutations in cis in the TELO2 gene, a c.514C-T transition (c.514C-T, NM_016111.3), resulting in a gln172-to-ter (Q172X) substitution, and a c.2034+1G-A transition (c.2034+1G-A, NM_016111.3) in intron 16, that was found in compound heterozygous state in a boy with You-Hoover-Fong syndrome (YHFS; 616954) by You et al. (2016), see 611140.0002. (less)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.	You J	American journal of human genetics	2016	PMID: 27132593

Text-mined citations for this variant ...

Record last updated Feb 08, 2025

ClinVar Genomic variation as it relates to human health

NM_016111.3(TELO2):c.[514C>T;2034+1G>A]

Variant Details

NM_016111.3(TELO2):c.[514C>T;2034+1G>A]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...