TCERG1L

Chr 10

transcription elongation regulator 1 like

NCBI Gene: 256536 ENSG00000176769 UniProt: Q5VWI1

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.

ResearchSummary from RefSeq

Predicted to enable RNA polymerase binding activity and transcription coregulator activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.06

Clinical Summary— TCERG1L

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

96 VUS of 111 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.06LOEUF

pLI 0.000

Z-score 1.33

OE 0.70 (0.47–1.06)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.47Z-score

OE missense 0.92 (0.83–1.02)

241 obs / 262.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.47–1.06)

0≤0.351.4

Missense OE?0.92 (0.83–1.02)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 16 / 22.8Missense obs/exp: 241 / 262.2Syn Z: 0.71

ClinVar Variant Classifications

111 submitted variants in ClinVar

ClinVar

Classification Summary

VUS96

Likely Benign9

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	96	0	0	96
Likely Benign	6	1	2	9
Benign	0	0	0	0
Total	102	1	2	105

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

View in ClinVar →

97 pathogenic / likely-pathogenic (of 110) ClinVar copy-number / structural variants overlap TCERG1L — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →