Is ATAD5 p.Asp297= (c.891C>T) pathogenic?

ATAD5 p.Asp297= (c.891C>T) is classified Benign in ATAD5 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-02-19). Common (popmax 6.21%, sas) — too common for a highly-penetrant pathogenic allele; Associated with ATAD5-related disorder.

What condition is associated with ATAD5 p.Asp297= (c.891C>T)?

ATAD5 p.Asp297= (c.891C>T) is associated with ATAD5-related disorder (ClinVar).

ATAD5 p.Asp297=

Q: How common is ATAD5 p.Asp297= (c.891C>T) in the general population?

ATAD5 p.Asp297= (c.891C>T) is common (popmax 6.21%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.891C>T · rs143006132 · VCV3055573

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 6.21%, sas) — too common for a highly-penetrant pathogenic allele

Conditions

ATAD5-related disorder

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 0.048	GERP -3.2
Overall
CADD	4.224	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 6.21% South Asian · 5,650/91,048 alleles

Filtering AF 6.07% ClinGen BA1/BS1 input FAF95, joint · FAF99 6.01%

Overall 2.59% 41,778/1,613,892 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	6.21%	16
Middle Eastern	5.74%	17
Ashkenazi Jewishnot grpmax-eligible	5.56%	18
Remaining individualsnot grpmax-eligible	2.91%	34
European (non-Finnish)	2.6%	38
Admixed American	1.22%	82
Finnishnot grpmax-eligible	0.749%	134
African / African-American	0.477%	209
Amishnot grpmax-eligible	0.329%	304
East Asian	0.0178%	5,610

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: ATAD5
Protein: p.Asp297=
Coding: c.891C>T
MANE Select: NM_024857
dbSNP: rs143006132
Type: single nucleotide variant
Location: chr17:30834972 (GRCh38)
Gene constraint: LOEUF 0.417 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 46.76 · 4 PDB

Full ATAD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ATAD5-related disorder

Similar variants

ATAD5 c.2956+9T>C Likely benign same condition
ATAD5 c.5456+7G>C Benign same condition
ATAD5 c.5457-7T>G Likely benign same condition
ATAD5 p.Arg1448Cys Benign same condition
ATAD5 p.Arg249Lys Benign same condition
ATAD5 p.Arg52= Likely benign same condition
ATAD5 p.Asn1767Ser Benign same condition
ATAD5 p.Asn699His 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/atad5-p-asp297 (accessed [today's date]).

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