Is ALK p.Ser930del (c.2784CTC[1]) pathogenic?

ALK p.Ser930del (c.2784CTC[1]) is classified Uncertain significance in ALK (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-27). No allele count reported in gnomAD v4.1 (AN 1,588,162); Associated with neuroblastoma, susceptibility to, 3.

What condition is associated with ALK p.Ser930del (c.2784CTC[1])?

ALK p.Ser930del (c.2784CTC[1]) is associated with neuroblastoma, susceptibility to, 3 (ClinVar).

How common is ALK p.Ser930del (c.2784CTC[1]) in the general population?

ALK p.Ser930del (c.2784CTC[1]) is no allele count reported in gnomAD v4.1 (AN 1,588,162) (gnomAD).

ALK p.Ser930del

c.2784CTC[1] · rs2465977417 · VCV2127138

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,588,162)

Conditions

neuroblastoma, susceptibility to, 3

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.019	GERP -4.2, phastCons 0.94

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,588,162). 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: ALK
Protein: p.Ser930del
Coding: c.2784CTC[1]
MANE Select: NM_004304
dbSNP: rs2465977417
Type: Microsatellite
Location: chr2:29228910 (GRCh38)
Gene constraint: LOEUF 0.562 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 68.26 · 79 PDB
Residue 930: a β-strand

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

Disease context

neuroblastoma, susceptibility to, 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ALK p.Ser930Leu Uncertain significance ★★ ⚠ same residue
ALK p.Ser930Ter Uncertain significance ★ same residue
ALK p.Glu804del Uncertain significance ★★ same condition
ALK p.Gly936del Uncertain significance ★★ same condition
ALK p.Pro1443del Uncertain significance ★★ same condition
ALK p.Ser1104del Uncertain significance ★★ same condition
ALK c.1155-20_1155-19del Benign ★★ same condition
ALK p.Glu1435del Benign/Likely benign ★★ 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/alk-p-ser930del (accessed [today's date]).

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