AAR2

Chr 20

AAR2 splicing factor

Also known as: C20orf4, CGI-23

NCBI Gene: 25980 ENSG00000131043 UniProt: Q9Y312 OMIM: 617365

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.35

Clinical Summary— AAR2

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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

1 unique Pathogenic / Likely Pathogenic· 55 VUS of 66 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?

1.35LOEUF

pLI 0.000

Z-score 0.71

OE 0.77 (0.47–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.86Z-score

OE missense 0.84 (0.74–0.95)

190 obs / 226.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.77 (0.47–1.35)

0≤0.351.4

Missense OE?0.84 (0.74–0.95)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 9 / 11.6Missense obs/exp: 190 / 226.2Syn Z: 0.79

ClinVar Variant Classifications

66 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS55

Likely Benign4

Likely Pathogenic

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	1	0	1
VUS	55	0	55
Likely Benign	3	1	4
Benign	0	0	0
Total	59	1	60

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

View in ClinVar →

9 pathogenic / likely-pathogenic (of 10) ClinVar copy-number / structural variants overlap AAR2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →