TRAPPC2L

Chr 16AR

trafficking protein particle complex subunit 2L

NCBI Gene: 51693 ENSG00000167515 UniProt: Q9UL33 OMIM: 610970

This gene encodes a protein that interacts with the TRAPP complex to mediate vesicular transport from the endoplasmic reticulum to Golgi apparatus. Mutations cause progressive early-onset encephalopathy with episodic rhabdomyolysis, inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Plays a role in vesicular transport from endoplasmic reticulum to Golgi

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.951 OMIM phenotype

Clinical Summary— TRAPPC2L

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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

20 unique Pathogenic / Likely Pathogenic· 64 VUS of 170 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.95LOEUF

pLI 0.000

Z-score -1.69

OE 1.65 (1.02–1.95)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.38Z-score

OE missense 1.11 (0.95–1.31)

102 obs / 91.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.65 (1.02–1.95)

0≤0.351.4

Missense OE?1.11 (0.95–1.31)

0≤0.61.4

Synonymous OE?1.45

0≤1.21.6

LoF obs/exp: 13 / 7.9Missense obs/exp: 102 / 91.7Syn Z: -2.20

ClinVar Variant Classifications

170 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13

Likely Pathogenic7

VUS64

Likely Benign52

Benign11

Conflicting8

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	9	3	1	0	13
Likely Pathogenic	3	4	0	0	7
VUS	0	58	5	1	64
Likely Benign	0	2	17	33	52
Benign	0	4	5	2	11
Conflicting	—				8
Total	12	71	28	36	155

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

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19 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap TRAPPC2L — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →