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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 19, 2016)
Accession:
VCV000236230.1
Variation ID:
236230
Description:
Haplotype
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NM_016111.3(TELO2):c.[514C>T;2034+1G>A]

Other names
TELO2, GLN172TER AND IVS16DS, G-A, +1
Functional consequence
-
Links
ClinGen: CA645373022
OMIM: 611140.0006
This haplotype includes the following variants
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter - RCV000225207.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TELO2 - - GRCh38
GRCh37
17 61

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: research
You-Hoover-Fong syndrome
Allele origin: germline
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University
Accession: SCV000298029.1
Submitted: (Aug 19, 2016)
Evidence details
Pathogenic
(Jun 17, 2016)
no assertion criteria provided
Method: literature only
YOU-HOOVER-FONG SYNDROME
Allele origin: germline
OMIM
Accession: SCV000282071.1
Submitted: (Jun 17, 2016)
Evidence details
Publications
PubMed (1)

Citations for 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

Record last updated Aug 25, 2019