Is ERLIN1 p.Val102= (c.306G>C) pathogenic?

ERLIN1 p.Val102= (c.306G>C) is classified Likely benign in ERLIN1 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-03-01). Very rare (popmax 0.00526%, nfe).

How common is ERLIN1 p.Val102= (c.306G>C) in the general population?

ERLIN1 p.Val102= (c.306G>C) is very rare (popmax 0.00526%, nfe) (gnomAD).

ERLIN1 p.Val102=

c.306G>C · VCV4084629

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00526%, nfe)

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 0.55	GERP -0.87, phastCons 1
Overall
CADD	12.84	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00526% European (non-Finnish) · 62/1,178,444 alleles

Filtering AF 0.00419% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0038%

Overall 0.00391% 63/1,610,976 alleles · very rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00526%	19,007
Remaining individualsnot grpmax-eligible	0.0016%	62,328

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: ERLIN1
Protein: p.Val102=
Coding: c.306G>C
MANE Select: NM_006459
Type: single nucleotide variant
Location: chr10:100176069 (GRCh38)
Gene constraint: LOEUF 1.049 · pLI 0.04 (gnomAD)
Structure: AlphaFold pLDDT 85.49 · 4 PDB

Full ERLIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ERLIN1 p.Ala23Thr Uncertain significance ★★ ⚠ same type
ERLIN1 p.Ala254Ser Uncertain significance ★★ ⚠ same type
ERLIN1 p.Ala258Val Uncertain significance ★★ ⚠ same type
ERLIN1 p.Ala292Ser Uncertain significance ★★ ⚠ same type
ERLIN1 p.Arg230Trp Uncertain significance ★★ ⚠ same type
ERLIN1 p.Arg243His Uncertain significance ★★ ⚠ same type
ERLIN1 p.His26Asp Uncertain significance ★★ ⚠ same type
ERLIN1 p.Ile223Thr 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/erlin1-p-val102 (accessed [today's date]).

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