ANKAR

Chr 2

ankyrin and armadillo repeat containing

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
GOFmechanismLOEUF 1.07
Clinical SummaryANKAR
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
220 VUS of 295 total submissions
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.07LOEUF
pLI 0.000
Z-score 1.07
OE 0.85 (0.681.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.86Z-score
OE missense 0.91 (0.850.97)
647 obs / 711.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.681.07)
00.351.4
Missense OE?0.91 (0.850.97)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 53 / 62.1Missense obs/exp: 647 / 711.2Syn Z: 1.78

This gene — mechanism propensity

DN
0.5279th %ile
GOF
0.6833th %ile
LOF
0.4825th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

295 submitted variants in ClinVar

Classification Summary

VUS220
Likely Benign14
Benign13
220
VUS
14
Likely Benign
13
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
220
0
0
220
Likely Benign
2
9
0
3
14
Benign
0
7
1
5
13
Total223618247

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

View in ClinVar →

28 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap ANKAR — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

ANKAR · 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

Carcinoma, Non-Small-Cell LungNeoplasm Metastasis

A Study of First-Line Olomorasib (LY3537982) and Pembrolizumab With or Without Chemotherapy in Patients With Advanced KRAS G12C-Mutant Non-small Cell Lung Cancer

RECRUITING
NCT06119581Phase PHASE3Eli Lilly and CompanyStarted 2023-12-21
LY3537982PembrolizumabPlacebo
Leukemia, Myeloid, Acute

A Study of Bleximenib, Venetoclax and Azacitidine For Treatment of Participants With Newly Diagnosed Acute Myeloid Leukemia (AML)

RECRUITING
NCT06852222Phase PHASE3Janssen Research & Development, LLCStarted 2025-06-04
BleximenibVenetoclax (VEN)Azacitidine (AZA)
CamptodactylyArthropathyCoxa Vara

CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome

RECRUITING
NCT07468461Meyer Children's Hospital IRCCSStarted 2025-08-01
Mucopolysaccharidosis II

An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007

ENROLLING BY INVITATION
NCT06075537Phase PHASE2, PHASE3Denali Therapeutics Inc.Started 2023-09-20
tividenofusp alfa
Systemic Lupus Erythematosus

An Efficacy and Safety Study of Intravenous Anifrolumab to Treat Systemic Lupus Erythematosus in Pediatric Participants

RECRUITING
NCT05835310Phase PHASE3AstraZenecaStarted 2024-03-14
AnifrolumabPlacebo
Advanced Breast Cancer

Saruparib (AZD5305) Plus Camizestrant Compared With CDK4/6 Inhibitor Plus Endocrine Therapy or Plus Camizestrant in HR-Positive, HER2-Negative (IHC 0, 1+, 2+/ ISH Non-amplified), BRCA1, BRCA2, or PALB2m Advanced Breast Cancer

RECRUITING
NCT06380751Phase PHASE3AstraZenecaStarted 2024-08-01
Saruparib (AZD5305)CamizestrantAbemaciclib
Treatment-resistant Depression (TRD)Major Depression

Relationship of Peripheral Inflammatory and Neuroprotective Biomarkers With Response to Intermittent Theta Burst Stimulation in Treatment-Resistant Depression

NOT YET RECRUITING
NCT07673913Phase NAGulhane Training and Research HospitalStarted 2026-09-01
Intermittent Theta Burst Stimulation (iTBS)
Advanced Solid Neoplasms

Efficacy and Safety of Olaparib (MK-7339) in Participants With Previously Treated, Homologous Recombination Repair Mutation (HRRm) or Homologous Recombination Deficiency (HRD) Positive Advanced Cancer (MK-7339-002 / LYNK-002)

ACTIVE NOT RECRUITING
NCT03742895Phase PHASE2Merck Sharp & Dohme LLCStarted 2018-12-12
Olaparib
Hereditary Autoinflammatory DiseasesSchnitzler SyndromeBehcet Syndrome

AutoInflammatory Disease Alliance Registry (AIDA)

RECRUITING
NCT05200715University of SienaStarted 2020-08-06
No intervention is foreseen by the protocol.
Oral Health

Effect of Hypochlorous Acid-containing Mouthwash on Healing After Impacted Wisdom Tooth Surgery

ENROLLING BY INVITATION
NCT06920485Phase NASaglik Bilimleri UniversitesiStarted 2025-05-01
Third molar surgeryPain MedicineWound healing
Phenylketonuria

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

ACTIVE NOT RECRUITING
NCT05972629Phase PHASE1, PHASE2SanofiStarted 2023-08-07
SAR444836
Carcinoma, Non-Small-Cell Lung

A Study of Amivantamab and Olomorasib Combination Therapy in Participants With Metastatic Non-Small Cell Lung Cancer

RECRUITING
NCT07227025Phase PHASE1, PHASE2Janssen Research & Development, LLCStarted 2026-03-03
AmivantamabOlomorasib