Is AR p.Asp829Val (c.2486A>T) pathogenic?

AR p.Asp829Val (c.2486A>T) is classified Pathogenic in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-16). AlphaMissense: likely pathogenic (0.9872); Absent from gnomAD v4.1; Associated with male infertility.

What condition is associated with AR p.Asp829Val (c.2486A>T)?

AR p.Asp829Val (c.2486A>T) is associated with male infertility (ClinVar).

How common is AR p.Asp829Val (c.2486A>T) in the general population?

AR p.Asp829Val (c.2486A>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AR p.Asp829Val (c.2486A>T)?

AlphaMissense predicts likely pathogenic (score 0.9872) — an in-silico prediction, not a clinical call.

AR p.Asp829Val

c.2486A>T · rs2147537806 · VCV1244244

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9872 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

male infertility

Computational evidence

Protein change
AlphaMissense	0.9872	likely pathogenic ✓ concordant with ClinVar
REVEL	0.947	strongly pathogenic-leaning
SaProt	LLR -11.96	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 1.9, phastCons 1
Overall
CADD	26.4	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: AR
Protein: p.Asp829Val
Coding: c.2486A>T
MANE Select: NM_000044
dbSNP: rs2147537806
Type: single nucleotide variant
Location: chrX:67722863 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 829: the nr lbd domain; the 'interaction with ccar1' region; the 'interaction with kat7' region; an α-helix; the 'interaction with lpxn' region

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

Disease context

male infertility — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AR p.Arg856His Pathogenic/Likely pathogenic ★★ same condition
AR p.Asn757Ser Pathogenic/Likely pathogenic ★★ ⚠ same condition
AR p.Tyr408Cys Uncertain significance ★★ ⚠ same condition
AR p.Arg618Trp Likely pathogenic ★ same condition
AR p.Arg787Gln Likely pathogenic ★ same condition
AR p.Cys687Arg Pathogenic ★ ⚠ same condition
AR p.Ala159Thr Conflicting classifications of pathogenicity ★ same condition
AR p.Ala475Val Conflicting classifications of pathogenicity ★ ⚠ 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-asp829val (accessed [today's date]).

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