Is ANKRD1 p.Lys266Ter (c.795dup) pathogenic?

ANKRD1 p.Lys266Ter (c.795dup) is classified Uncertain significance in ANKRD1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-06-03). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with ANKRD1 p.Lys266Ter (c.795dup)?

ANKRD1 p.Lys266Ter (c.795dup) is associated with Cardiovascular phenotype (ClinVar).

How common is ANKRD1 p.Lys266Ter (c.795dup) in the general population?

ANKRD1 p.Lys266Ter (c.795dup) is absent from gnomAD (gnomAD).

ANKRD1 p.Lys266Ter

c.795dup · rs794728977 · VCV201672

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 8 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.5, 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: ANKRD1
Protein: p.Lys266Ter
Coding: c.795dup
MANE Select: NM_014391
dbSNP: rs794728977
Type: Duplication
Location: chr10:90915596 (GRCh38)
Gene constraint: LOEUF 1.038 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.64

Full ANKRD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANKRD1 c.553-6_553-1dup Uncertain significance ★★ same condition
ANKRD1 p.Leu75fs Uncertain significance ★★ same condition
ANKRD1 p.Lys13_Gly31dup Uncertain significance ★★ same condition
ANKRD1 p.Lys266Glu Uncertain significance ★★ ⚠ same residue
ANKRD1 p.Lys266Asn Uncertain significance ★ ⚠ same residue
ANKRD1 p.Met267delinsIleTer Uncertain significance ★ same condition
ANKRD1 c.207+1G>T Uncertain significance ★★ same condition
ANKRD1 c.27+1G>T Uncertain significance ★★ 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/ankrd1-p-lys266ter (accessed [today's date]).

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