Is ANKRD1 p.His191fs (c.571del) pathogenic?

ANKRD1 p.His191fs (c.571del) is classified Uncertain significance in ANKRD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-03-20). Absent from gnomAD; Associated with ANKRD1-related dilated cardiomyopathy.

What condition is associated with ANKRD1 p.His191fs (c.571del)?

ANKRD1 p.His191fs (c.571del) is associated with ANKRD1-related dilated cardiomyopathy (ClinVar).

How common is ANKRD1 p.His191fs (c.571del) in the general population?

ANKRD1 p.His191fs (c.571del) is absent from gnomAD (gnomAD).

ANKRD1 p.His191fs

c.571del · rs1847373157 · VCV1016343

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

ANKRD1-related dilated cardiomyopathy

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 7.9	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.His191fs
Coding: c.571del
MANE Select: NM_014391
dbSNP: rs1847373157
Type: Deletion
Location: chr10:90916251 (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

ANKRD1-related dilated cardiomyopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANKRD1 p.His191Asn Uncertain significance ★ ⚠ same residue
ANKRD1 p.Pro255fs Uncertain significance ★★ same condition
ANKRD1 p.Pro52fs Uncertain significance ★★ same condition
ANKRD1 c.345+17del Benign ★★ same condition
ANKRD1 c.346-14_346-9del Benign/Likely benign ★★ same condition
ANKRD1 c.346-17_346-12del Likely benign ★★ same condition
ANKRD1 c.346-18_346-9del Likely benign ★★ same condition
ANKRD1 c.346-21_346-12del Likely benign ★★ 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-his191fs (accessed [today's date]).

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