ANKRD34A

Chr 1AR

ankyrin repeat domain 34A

Also known as: ANKRD34

NCBI Gene: 284615 ENSG00000272031 UniProt: Q69YU3 OMIM: 617457

Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.251 OMIM phenotype

Clinical Summary— ANKRD34A

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 39 VUS of 41 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.25LOEUF

pLI 0.981

Z-score 3.22

OE 0.00 (0.00–0.25)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.46Z-score

OE missense 0.60 (0.53–0.68)

175 obs / 293.7 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.25)

0≤0.351.4

Missense OE?0.60 (0.53–0.68)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 0 / 12.1Missense obs/exp: 175 / 293.7Syn Z: 0.49

This gene — mechanism propensity

0.4586th %ile

GOF

0.5562th %ile

LOF

0.71top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.25

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

41 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS39

Pathogenic

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	1	1
Likely Pathogenic	0	0	0
VUS	38	1	39
Likely Benign	0	0	0
Benign	0	0	0
Total	38	2	40

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

View in ClinVar →

135 pathogenic / likely-pathogenic (of 210) ClinVar copy-number / structural variants overlap ANKRD34A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →