ANKRD10

Chr 13

ankyrin repeat domain 10

Predicted to be involved in protein targeting to chloroplast. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
3
Pubs (1 yr)
110
P/LP submissions
0%
P/LP missense
0.62
LOEUF
DN
Mechanism· predicted
Clinical SummaryANKRD10
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.
📋
ClinVar Variants
110 unique Pathogenic / Likely Pathogenic· 53 VUS of 175 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.62LOEUF
pLI 0.165
Z-score 2.61
OE 0.27 (0.130.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.35Z-score
OE missense 0.76 (0.670.85)
183 obs / 242.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.27 (0.130.62)
00.351.4
Missense OE0.76 (0.670.85)
00.61.4
Synonymous OE1.06
01.21.6
LoF obs/exp: 4 / 14.9Missense obs/exp: 183 / 242.1Syn Z: -0.50
DN
0.6453th %ile
GOF
0.6150th %ile
LOF
0.4726th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

175 submitted variants in ClinVar

Classification Summary

Pathogenic109
Likely Pathogenic1
VUS53
Likely Benign5
109
Pathogenic
1
Likely Pathogenic
53
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
109
0
109
Likely Pathogenic
0
0
1
0
1
VUS
0
44
9
0
53
Likely Benign
0
5
0
0
5
Benign
0
0
0
0
0
Total0491190168

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

View in ClinVar →

Protein Context — Lollipop Plot

ANKRD10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC