NHS p.Val49fs
c.145dup · VCV4949032
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
NHS-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 in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 0.87, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- NHS
- Protein
- p.Val49fs
- Coding
- c.145dup
- MANE Select
- NM_001291867
- Type
- Duplication
- Location
- chrX:17375900 (GRCh38)
- Structure
- AlphaFold pLDDT 43.65
- Residue 49
- the 'wave homology domain (whd)' region; the 'disordered' region
Disease context
NHS-related disorder
Similar variants
- NHS p.Cys1373fs Likely pathogenic ★ same condition
- NHS p.Glu1318Ter Likely pathogenic ★ same condition
- NHS p.Val49= Uncertain significance ★ same residue
- NHS p.Arg248Ter Pathogenic ★★ same condition
- NHS p.Gln411Ter Pathogenic ★★ same condition
- NHS p.Arg43Gly Uncertain significance ★★ same condition
- NHS p.Ala115fs Pathogenic ★ same condition
- NHS p.Arg176fs Likely pathogenic ★ 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/nhs-p-val49fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown