AHDC1 p.Pro155=

Q: Is AHDC1 p.Pro155= (c.465G>A) pathogenic?

AHDC1 p.Pro155= (c.465G>A) is classified Benign in AHDC1 (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-02-03). Common (popmax 9.9%, mid) — too common for a highly-penetrant pathogenic allele; Associated with AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome.

Q: What condition is associated with AHDC1 p.Pro155= (c.465G>A)?

AHDC1 p.Pro155= (c.465G>A) is associated with AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome (ClinVar).

Q: How common is AHDC1 p.Pro155= (c.465G>A) in the general population?

AHDC1 p.Pro155= (c.465G>A) is common (popmax 9.9%, mid) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.465G>A · rs112179924 · VCV1169790

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Common

common (popmax 9.9%, mid) — too common for a highly-penetrant pathogenic allele

Conditions

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -8.8	GERP -3.4
Overall
CADD	0.809	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 9.9% Middle Eastern · 600/6,062 alleles

Filtering AF 9.24% ClinGen BA1/BS1 input FAF95, joint · FAF99 8.98%

Overall 7.82% 126,123/1,613,040 alleles · common exomes 114,231/1,460,988 · genomes 11,892/152,052 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	9.9%	10
Amishnot grpmax-eligible	9.01%	11
European (non-Finnish)	8.58%	12
African / African-American	8.35%	12
Remaining individualsnot grpmax-eligible	7.43%	13
Finnishnot grpmax-eligible	7.01%	14
Ashkenazi Jewishnot grpmax-eligible	6.87%	15
Admixed American	4.69%	21
South Asian	3.94%	25
East Asian	0.908%	110

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: AHDC1
Protein: p.Pro155=
Coding: c.465G>A
MANE Select: NM_001371928
dbSNP: rs112179924
Type: single nucleotide variant
Location: chr1:27551651 (GRCh38)
Gene constraint: LOEUF 0.168 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 38.82
Residue 155: the 'disordered' region; a UniProt-annotated variant site (in xigis)

Full AHDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AHDC1 p.Pro155Leu Uncertain significance ★ ⚠ same residue
AHDC1 p.Arg1272Ter Pathogenic ★★ same condition
AHDC1 p.Arg151Ter Pathogenic/Likely pathogenic ★★ same condition
AHDC1 p.Arg587Ter Pathogenic ★★ same condition
AHDC1 p.Arg688Ter Pathogenic ★★ same condition
AHDC1 p.Arg789Ter Pathogenic ★★ same condition
AHDC1 p.Arg925Ter Pathogenic/Likely pathogenic ★★ same condition
AHDC1 p.Gln332Ter 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/ahdc1-p-pro155 (accessed [today's date]).

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