ANKRD34A

Chr 1AR

ankyrin repeat domain 34A

Also known as: ANKRD34

NCBI Gene: 284615 ENSG00000272031 UniProt: Q69YU3 OMIM: 617457

Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Short stature, oligodontia, dysmorphic facies, and motor delayMIM #619234

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Short stature, oligodontia, dysmorphic facies, and motor delay; no ClinGen or GenCC tier

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

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

Background carrier burden — how many people carry a rare variant somewhere in ANKRD34A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 240

525 rare PASS variants

Rare truncating (LoF)

1 in 11,000

24 rare PASS variants

Rare synonymous (reference)

1 in 240

324 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKRD34A. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 270	1 in 9,800
South Asian	~43k	1 in 230	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 190	≈ 1 in 7,200
European (Finnish)	~27k	1 in 1,300	none seen
Admixed American	~22k	1 in 220	≈ 1 in 11,000
African / African American	~21k	1 in 150	≈ 1 in 5,400
East Asian	~20k	1 in 130	≈ 1 in 9,900
Ashkenazi Jewish	~13k	1 in 630	≈ 1 in 12,000
Middle Eastern	~2,884	1 in 93	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓