Is COX7B p.Ter81= (c.242A>G) pathogenic?

COX7B p.Ter81= (c.242A>G) is classified Likely benign in COX7B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-12-04). Rare (popmax 0.124%, mid); Associated with COX7B-related disorder.

What condition is associated with COX7B p.Ter81= (c.242A>G)?

COX7B p.Ter81= (c.242A>G) is associated with COX7B-related disorder (ClinVar).

How common is COX7B p.Ter81= (c.242A>G) in the general population?

COX7B p.Ter81= (c.242A>G) is rare (popmax 0.124%, mid) (gnomAD).

COX7B p.Ter81=

c.242A>G · rs1557221022 · VCV3049194

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

stop-loss

predicted LoF

gnomAD v4.1

Rare

rare (popmax 0.124%, mid)

Conditions

COX7B-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	stop-loss	predicted loss-of-function
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5	GERP 1.1, phastCons 1
Overall
CADD	7.577	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.124% Middle Eastern · 4/3,231 alleles

Filtering AF 0.0422% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0255%

Overall 0.000739% 8/1,082,141 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.124%	808
European (non-Finnish)	0.000453%	220,512

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: COX7B
Protein: p.Ter81=
Coding: c.242A>G
MANE Select: NM_001866
dbSNP: rs1557221022
Type: single nucleotide variant
Location: chrX:77905260 (GRCh38)
Structure: AlphaFold pLDDT 90.15 · 3 PDB

Full COX7B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

COX7B-related disorder

Similar variants

COX7B p.Arg29His Uncertain significance ★★ ⚠ same type
COX7B c.165+10A>G Benign ★★ same type
COX7B c.*82G>T Likely benign ★★ same type
COX7B p.Ser16Arg Benign ★★ ⚠ same type
COX7B c.40+5G>C Likely pathogenic ★ same type
COX7B p.Ala57Ser Uncertain significance ★ ⚠ same type
COX7B p.Asn79Asp Uncertain significance ★ ⚠ same type
COX7B p.Leu66Val Uncertain significance ★ ⚠ 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/cox7b-p-ter81 (accessed [today's date]).

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