Is FTH1 p.Ser164Ter (c.487_490dup) pathogenic?

FTH1 p.Ser164Ter (c.487490dup) is classified Pathogenic in FTH1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-01-10). No gnomAD frequency available for this variant; Associated with neurodegeneration with brain iron accumulation 9.

What condition is associated with FTH1 p.Ser164Ter (c.487_490dup)?

FTH1 p.Ser164Ter (c.487_490dup) is associated with neurodegeneration with brain iron accumulation 9 (ClinVar).

How common is FTH1 p.Ser164Ter (c.487_490dup) in the general population?

FTH1 p.Ser164Ter (c.487_490dup) is no gnomAD frequency available for this variant (gnomAD).

FTH1 p.Ser164Ter

c.487_490dup · rs2541427923 · VCV2685998

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

neurodegeneration with brain iron accumulation 9

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 8.3	GERP 1.4, 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: FTH1
Protein: p.Ser164Ter
Coding: c.487_490dup
MANE Select: NM_002032
dbSNP: rs2541427923
Type: Duplication
Location: chr11:61964788 (GRCh38)

Full FTH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

neurodegeneration with brain iron accumulation 9 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/fth1-p-ser164ter (accessed [today's date]).

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