Is ANKRD1 p.Arg215fs (c.643del) pathogenic?

ANKRD1 p.Arg215fs (c.643del) is classified Uncertain significance in ANKRD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-11). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with ANKRD1 p.Arg215fs (c.643del)?

ANKRD1 p.Arg215fs (c.643del) is associated with Cardiovascular phenotype (ClinVar).

How common is ANKRD1 p.Arg215fs (c.643del) in the general population?

ANKRD1 p.Arg215fs (c.643del) is absent from gnomAD (gnomAD).

ANKRD1 p.Arg215fs

c.643del · rs2492956641 · VCV2626153

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

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	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 6 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 2.3, 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.Arg215fs
Coding: c.643del
MANE Select: NM_014391
dbSNP: rs2492956641
Type: Deletion
Location: chr10:90916179 (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 p.Ala247fs Uncertain significance ★★ same condition
ANKRD1 c.346-29_346-12del Benign/Likely benign ★★ same condition
ANKRD1 p.Arg215Gln Uncertain significance ★ ⚠ same residue
ANKRD1 p.Glu88_Ile89delinsVal Uncertain significance ★ same condition
ANKRD1 p.Lys143del Uncertain significance ★ same condition
ANKRD1 p.Pro110fs 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-arg215fs (accessed [today's date]).

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