Is AR p.Ala217fs (c.649del) pathogenic?

AR p.Ala217fs (c.649del) is classified Likely pathogenic in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2021-05-11). No gnomAD frequency available for this variant.

How common is AR p.Ala217fs (c.649del) in the general population?

AR p.Ala217fs (c.649del) is no gnomAD frequency available for this variant (gnomAD).

AR p.Ala217fs

c.649del · rs2147317628 · VCV1323926

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 1 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.7	GERP 0.68, phastCons 0.003

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: AR
Protein: p.Ala217fs
Coding: c.649del
MANE Select: NM_000044
dbSNP: rs2147317628
Type: Deletion
Location: chrX:67545791 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 217: the 'interaction with znf318' region; the 'modulating' region; the 'disordered' region

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

Similar variants

AR p.Ala217Thr Uncertain significance ★ ⚠ same residue
AR p.Asp768fs Pathogenic ★★ same type
AR p.Pro487fs Pathogenic ★★ same type
AR p.Pro534_Tyr535insTer Pathogenic/Likely pathogenic ★★ same type
AR c.2317_2318+2del Pathogenic ★ same type
AR p.Ala52fs Pathogenic ★ same type
AR p.Ala680_Val685del Pathogenic ★ same type
AR p.Arg40fs Likely pathogenic ★ same type

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/ar-p-ala217fs (accessed [today's date]).

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