Is ERBB3 p.Asp628fs (c.1881_1891del) pathogenic?

ERBB3 p.Asp628fs (c.18811891del) is classified Likely pathogenic in ERBB3 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-09-15). No gnomAD frequency available for this variant; Associated with ERBB3-related disorder.

What condition is associated with ERBB3 p.Asp628fs (c.1881_1891del)?

ERBB3 p.Asp628fs (c.1881_1891del) is associated with ERBB3-related disorder (ClinVar).

How common is ERBB3 p.Asp628fs (c.1881_1891del) in the general population?

ERBB3 p.Asp628fs (c.1881_1891del) is no gnomAD frequency available for this variant (gnomAD).

ERBB3 p.Asp628fs

c.1881_1891del · rs2540758459 · VCV2631098

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

ERBB3-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 16 of 28
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 1.8, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: ERBB3
Protein: p.Asp628fs
Coding: c.1881_1891del
MANE Select: NM_001982
dbSNP: rs2540758459
Type: Deletion
Location: chr12:56095278 (GRCh38)
Gene constraint: LOEUF 0.695 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 72.90 · 23 PDB
Residue 628: an α-helix

Full ERBB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ERBB3-related disorder

Similar variants

ERBB3 p.Trp373Arg Uncertain significance ★★ ⚠ same condition
ERBB3 c.234+2T>C Likely pathogenic ★ same condition
ERBB3 p.Arg444Ter Likely pathogenic ★ same condition
ERBB3 p.Ala913Thr Uncertain significance ⚠ same condition
ERBB3 p.Gln932Pro Uncertain significance ⚠ same condition
ERBB3 p.Leu1015_Glu1016insAspLeu Uncertain significance same condition
ERBB3 p.Leu431Phe Uncertain significance ⚠ same condition
ERBB3 p.Met559Ile 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/erbb3-p-asp628fs (accessed [today's date]).

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