Is ERCC2 p.His210= (c.630C>T) pathogenic?

ERCC2 p.His210= (c.630C>T) is classified Likely benign in ERCC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-12-20). No allele count reported in gnomAD v4.1 (AN 1,613,848); Associated with Inborn genetic diseases.

What condition is associated with ERCC2 p.His210= (c.630C>T)?

ERCC2 p.His210= (c.630C>T) is associated with Inborn genetic diseases (ClinVar).

How common is ERCC2 p.His210= (c.630C>T) in the general population?

ERCC2 p.His210= (c.630C>T) is no allele count reported in gnomAD v4.1 (AN 1,613,848) (gnomAD).

ERCC2 p.His210=

c.630C>T · rs2123292207 · VCV1752785

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,613,848)

Conditions

Inborn genetic diseases

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 2.2	GERP -1.8, phastCons 1
Overall
CADD	11.56	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,613,848). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ERCC2
Protein: p.His210=
Coding: c.630C>T
MANE Select: NM_000400
dbSNP: rs2123292207
Type: single nucleotide variant
Location: chr19:45364512 (GRCh38)
Gene constraint: LOEUF 1.089 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 87.74 · 55 PDB
Residue 210: the helicase atp-binding domain; an α-helix

Full ERCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ERCC2 p.His210Arg Uncertain significance ★ ⚠ same residue
MAG p.Ala210Asp Uncertain significance ★ ⚠ same residue
MAG p.Ala210Val Uncertain significance ★ ⚠ same residue
ERCC2 p.Ala725Pro Pathogenic/Likely pathogenic ★★ same condition
ERCC2 p.Arg616Pro Pathogenic ★★ same condition
ERCC2 p.Ala108Thr Uncertain significance ★★ ⚠ same condition
ERCC2 p.Ala144Val Uncertain significance ★★ ⚠ same condition
ERCC2 p.Ala226Thr 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/ercc2-p-his210 (accessed [today's date]).

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