Is ANKRD11 p.Pro2365= (c.7095G>C) pathogenic?

ANKRD11 p.Pro2365= (c.7095G>C) is classified Likely benign in ANKRD11 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-21). Absent from gnomAD v4.1; Associated with KBG syndrome.

What condition is associated with ANKRD11 p.Pro2365= (c.7095G>C)?

ANKRD11 p.Pro2365= (c.7095G>C) is associated with KBG syndrome (ClinVar).

How common is ANKRD11 p.Pro2365= (c.7095G>C) in the general population?

ANKRD11 p.Pro2365= (c.7095G>C) is absent from gnomAD v4.1 (gnomAD).

ANKRD11 p.Pro2365=

c.7095G>C · rs1343429737 · VCV2018726

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,480,478)

Conditions

KBG syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -12	GERP -1.9
Overall
CADD	0.037	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,480,478). 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.Pro2365=
Coding: c.7095G>C
MANE Select: NM_013275
dbSNP: rs1343429737
Type: single nucleotide variant
Location: chr16:89279447 (GRCh38)
Gene constraint: LOEUF 0.132 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 39.44
Residue 2365: the 'disordered' region

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

Disease context

KBG syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANKRD11 p.Pro2365Leu Uncertain significance ★★ ⚠ same residue
ANKRD11 p.Pro2365Thr Uncertain significance ★ ⚠ same residue
ANKRD11 c.744+1G>T Pathogenic ★★ same condition
ANKRD11 c.745-2A>G Likely pathogenic ★★ same condition
ANKRD11 c.7470+1G>C Pathogenic ★★ same condition
ANKRD11 c.7569+1G>A Pathogenic ★★ same condition
ANKRD11 c.7569+1G>C Likely pathogenic ★★ same condition
ANKRD11 c.7570-1G>A 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-pro2365 (accessed [today's date]).

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