ERGIC1

Chr 5AR

endoplasmic reticulum-golgi intermediate compartment 1

Also known as: AMC2, AMCN, ERGIC-32, ERGIC32, NET24

NCBI Gene: 57222 ENSG00000113719 UniProt: Q969X5 OMIM: 617946

This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.471 OMIM phenotype

Clinical Summary— ERGIC1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.65) — some intolerance to loss-of-function variants.

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ClinVar Variants

3 unique Pathogenic / Likely Pathogenic· 31 VUS of 56 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.47LOEUF

pLI 0.647

Z-score 3.07

OE 0.18 (0.08–0.47)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.45Z-score

OE missense 0.70 (0.60–0.81)

128 obs / 183.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.18 (0.08–0.47)

0≤0.351.4

Missense OE?0.70 (0.60–0.81)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 3 / 16.4Missense obs/exp: 128 / 183.3Syn Z: 1.03

ClinVar Variant Classifications

56 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Pathogenic1

VUS31

Likely Benign6

Benign2

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	1	1	0	2
Likely Pathogenic	0	1	0	0	1
VUS	1	29	1	0	31
Likely Benign	0	1	3	2	6
Benign	0	0	1	1	2
Total	1	32	6	3	42

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

View in ClinVar →

20 pathogenic / likely-pathogenic (of 23) ClinVar copy-number / structural variants overlap ERGIC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →