Is ERCC5 p.Arg370= (c.1110T>A) pathogenic?

ERCC5 p.Arg370= (c.1110T>A) is classified Conflicting classifications of pathogenicity in ERCC5 (ClinVar, Conflicting submitters, 9 submitters; last evaluated 2026-06-01). Rare (popmax 0.167%, nfe); Associated with hereditary neoplastic syndrome.

What condition is associated with ERCC5 p.Arg370= (c.1110T>A)?

ERCC5 p.Arg370= (c.1110T>A) is associated with hereditary neoplastic syndrome, xeroderma pigmentosum group G (ClinVar).

How common is ERCC5 p.Arg370= (c.1110T>A) in the general population?

ERCC5 p.Arg370= (c.1110T>A) is rare (popmax 0.167%, nfe) (gnomAD).

ERCC5 p.Arg370=

c.1110T>A · rs150791877 · VCV310918

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 9 submitters

gnomAD v4.1

Rare

rare (popmax 0.167%, nfe)

Conditions

hereditary neoplastic syndrome

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -8.1	GERP -3.9
Overall
CADD	0.132	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.167% European (non-Finnish) · 1,971/1,179,982 alleles

Filtering AF 0.161% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.158%

Overall 0.142% 2,297/1,613,914 alleles · rare exomes 2,159/1,461,878 · genomes 138/152,036 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.167%	599
Finnishnot grpmax-eligible	0.123%	810
South Asian	0.114%	876
Remaining individualsnot grpmax-eligible	0.106%	947
Ashkenazi Jewishnot grpmax-eligible	0.0608%	1,645
Middle Eastern	0.0495%	2,021
Admixed American	0.0483%	2,069
African / African-American	0.036%	2,776

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: ERCC5
Protein: p.Arg370=
Coding: c.1110T>A
MANE Select: NM_000123
dbSNP: rs150791877
Type: single nucleotide variant
Location: chr13:102862259 (GRCh38)

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

Also linked: xeroderma pigmentosum group G

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-arg370 (accessed [today's date]).

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