TMPRSS6 p.Ser119fs
c.355_361del · VCV3658350
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 4 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.18 | GERP -2.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TMPRSS6
- Protein
- p.Ser119fs
- Coding
- c.355_361del
- MANE Select
- NM_001374504
- Type
- Deletion
- Location
- chr22:37096691 (GRCh38)
- Gene constraint
- LOEUF 0.821 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 84.69 · 1 PDB
- Residue 119
- the sea domain; an α-helix
Similar variants
- TMPRSS6 p.Leu662fs Pathogenic/Likely pathogenic ★★ same type
- TMPRSS6 c.631+17del Benign/Likely benign ★★ same type
- TMPRSS6 p.Asn473fs Likely pathogenic ★ same type
- TMPRSS6 p.Gln541fs Likely pathogenic ★ same type
- TMPRSS6 p.Glu452fs Likely pathogenic ★ same type
- TMPRSS6 p.Gly563fs Pathogenic ★ same type
- TMPRSS6 p.Leu157fs Pathogenic ★ same type
- TMPRSS6 p.Leu246fs Likely pathogenic ★ 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/tmprss6-p-ser119fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown