Is ERCC5 p.Glu267= (c.801A>G) pathogenic?

ERCC5 p.Glu267= (c.801A>G) is classified Benign/Likely benign in ERCC5 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-02-16). Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with ERCC5 p.Glu267= (c.801A>G)?

ERCC5 p.Glu267= (c.801A>G) is associated with hereditary neoplastic syndrome (ClinVar).

How common is ERCC5 p.Glu267= (c.801A>G) in the general population?

ERCC5 p.Glu267= (c.801A>G) is absent from gnomAD v4.1 (gnomAD).

ERCC5 p.Glu267=

c.801A>G · rs1882621749 · VCV1692200

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

hereditary neoplastic 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 1.5	GERP -4.4, phastCons 1
Overall
CADD	5.489	PHRED · no single calibrated threshold — expert panels disagree

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: ERCC5
Protein: p.Glu267=
Coding: c.801A>G
MANE Select: NM_000123
dbSNP: rs1882621749
Type: single nucleotide variant
Location: chr13:102861635 (GRCh38)
Gene constraint: LOEUF 0.766 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 57.91 · 10 PDB
Residue 267: the 'spacer region' region

Full ERCC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Similar variants

ERCC5 p.Glu1090Lys Uncertain significance ★★ ⚠ same condition
ERCC5 p.Glu595Gln Uncertain significance ★★ ⚠ same condition
ERCC5 p.Ala376Val Likely benign ★★ same condition
ERCC5 p.Asp379= Likely benign ★★ same condition
ERCC5 p.Ala1007Gly Uncertain significance ★ ⚠ same condition
ERCC5 p.Arg1166= Uncertain significance ★ same condition
ERCC5 p.Arg366Gln Uncertain significance ★ ⚠ same condition
ERCC5 p.Glu302Ala Uncertain significance ★ ⚠ 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/ercc5-p-glu267 (accessed [today's date]).

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