Is AR p.Phe857del (c.2570_2572del) pathogenic?

AR p.Phe857del (c.25702572del) is classified Likely pathogenic in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2020-11-12). No gnomAD frequency available for this variant; Associated with androgen insensitivity syndrome.

What condition is associated with AR p.Phe857del (c.2570_2572del)?

AR p.Phe857del (c.2570_2572del) is associated with androgen insensitivity syndrome (ClinVar).

How common is AR p.Phe857del (c.2570_2572del) in the general population?

AR p.Phe857del (c.2570_2572del) is no gnomAD frequency available for this variant (gnomAD).

AR p.Phe857del

c.2570_2572del · rs2076142436 · VCV982927

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

androgen insensitivity syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.9, phastCons 1

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.Phe857del
Coding: c.2570_2572del
MANE Select: NM_000044
dbSNP: rs2076142436
Type: Deletion
Location: chrX:67722945 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 857: the nr lbd domain; the 'interaction with ccar1' region; the 'interaction with kat7' region; a UniProt-annotated variant site (in ais); an α-helix; the 'interaction with lpxn' region

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

Disease context

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

Similar variants

AR p.Phe857= Likely benign ★ same residue
AR p.Phe857Leu Pathogenic same residue
AR p.Asp768fs Pathogenic ★★ same condition
AR p.Pro487fs Pathogenic ★★ same condition
AR p.Pro534_Tyr535insTer Pathogenic/Likely pathogenic ★★ same condition
AR p.Ala52fs Pathogenic ★ same condition
AR p.Asn757fs Pathogenic ★ same condition
AR p.Asn834_Tyr835insTer 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/ar-p-phe857del (accessed [today's date]).

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