Is NEB p.Ser1908fs (c.5722del) pathogenic?

NEB p.Ser1908fs (c.5722del) is classified Pathogenic/Likely pathogenic in NEB (ClinVar, Multiple submitters, 4 submitters; last evaluated 2024-03-07). Absent from gnomAD; Associated with nemaline myopathy.

What condition is associated with NEB p.Ser1908fs (c.5722del)?

NEB p.Ser1908fs (c.5722del) is associated with nemaline myopathy, nemaline myopathy 2, arthrogryposis multiplex congenita 6 (ClinVar).

How common is NEB p.Ser1908fs (c.5722del) in the general population?

NEB p.Ser1908fs (c.5722del) is absent from gnomAD (gnomAD).

NEB p.Ser1908fs

c.5722del · rs1553484601 · VCV465618

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

nemaline myopathy

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 45 of 182
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.69	GERP -1.4, phastCons 0.008

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: NEB
Protein: p.Ser1908fs
Coding: c.5722del
MANE Select: NM_001164508
dbSNP: rs1553484601
Type: Deletion
Location: chr2:151663589 (GRCh38)
Gene constraint: LOEUF 0.597 · pLI <0.01 (gnomAD)
Residue 1908: a UniProt-annotated variant site (in amc6)

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

Disease context

nemaline myopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: nemaline myopathy 2 arthrogryposis multiplex congenita 6

Similar variants

NEB p.Ser1908= Likely benign ★★ same residue
NEB p.Ala339fs Uncertain significance ★★★ same condition
NEB c.1570-2del Pathogenic/Likely pathogenic ★★ same condition
NEB c.22272+2_22272+3del Likely pathogenic ★★ same condition
NEB c.3252_3255+3del Pathogenic/Likely pathogenic ★★ same condition
NEB c.403-6_405del Likely pathogenic ★★ same condition
NEB c.5032-1del Likely pathogenic ★★ same condition
NEB p.Ala1542fs Pathogenic/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/neb-p-ser1908fs (accessed [today's date]).

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