Is ANKRD11 p.Pro306fs (c.915del) pathogenic?

ANKRD11 p.Pro306fs (c.915del) is classified Pathogenic in ANKRD11 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-01-22). Absent from gnomAD; Associated with Global developmental delay.

What condition is associated with ANKRD11 p.Pro306fs (c.915del)?

ANKRD11 p.Pro306fs (c.915del) is associated with Global developmental delay (ClinVar).

How common is ANKRD11 p.Pro306fs (c.915del) in the general population?

ANKRD11 p.Pro306fs (c.915del) is absent from gnomAD (gnomAD).

ANKRD11 p.Pro306fs

c.915del · rs2151766822 · VCV995806

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Global developmental delay

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 9 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ANKRD11
Protein: p.Pro306fs
Coding: c.915del
MANE Select: NM_013275
dbSNP: rs2151766822
Type: Deletion
Location: chr16:89285627 (GRCh38)
Gene constraint: LOEUF 0.132 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 39.44
Residue 306: the 'disordered' region

Full ANKRD11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Global developmental delay — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANKRD11 p.Lys1198fs Pathogenic ★★ same condition
ANKRD11 p.Thr2471_Gly2474del Likely pathogenic ★ same condition
ANKRD11 p.Pro306= Likely benign ★ same residue
ANKRD11 p.Ala1371_Lys1376del Uncertain significance same condition
ANKRD11 c.7470+2T>C Likely pathogenic ★ same condition
ANKRD11 p.Asn1297fs Pathogenic ★ same condition
ANKRD11 p.Lys2453fs Pathogenic ★ same condition
ANKRD11 p.Ser1708Ter Pathogenic ★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ankrd11-p-pro306fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown