TCERG1L

Chr 10

transcription elongation regulator 1 like

This gene encodes a protein predicted to bind RNA polymerase and function as a transcription coregulator in the nucleus. The gene shows minimal constraint against loss-of-function variants, and no definitive disease associations have been established in humans. Currently, there is insufficient evidence to determine specific disease phenotypes or inheritance patterns associated with TCERG1L mutations.

Summary from RefSeq
Research Assistant →
0
Active trials
1
Pubs (1 yr)
96
P/LP submissions
0%
P/LP missense
1.06
LOEUF
Mechanism
Clinical SummaryTCERG1L
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
96 unique Pathogenic / Likely Pathogenic· 105 VUS of 219 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.06LOEUF
pLI 0.000
Z-score 1.33
OE 0.70 (0.471.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.47Z-score
OE missense 0.92 (0.831.02)
241 obs / 262.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.70 (0.471.06)
00.351.4
Missense OE0.92 (0.831.02)
00.61.4
Synonymous OE0.91
01.21.6
LoF obs/exp: 16 / 22.8Missense obs/exp: 241 / 262.2Syn Z: 0.71

ClinVar Variant Classifications

219 submitted variants in ClinVar

Classification Summary

Pathogenic92
Likely Pathogenic4
VUS105
Likely Benign11
Benign1
92
Pathogenic
4
Likely Pathogenic
105
VUS
11
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
92
0
92
Likely Pathogenic
0
0
4
0
4
VUS
0
96
9
0
105
Likely Benign
0
6
3
2
11
Benign
0
0
1
0
1
Total01021092213

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TCERG1L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
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