Is NEB p.Arg7966= (c.23898A>G) pathogenic?

NEB p.Arg7966= (c.23898A>G) is classified Likely benign in NEB (ClinVar, Single submitter, 1 submitter; last evaluated 2020-05-13). No allele count reported in gnomAD v4.1 (AN 1,608,692); Associated with nemaline myopathy 2.

What condition is associated with NEB p.Arg7966= (c.23898A>G)?

NEB p.Arg7966= (c.23898A>G) is associated with nemaline myopathy 2 (ClinVar).

How common is NEB p.Arg7966= (c.23898A>G) in the general population?

NEB p.Arg7966= (c.23898A>G) is no allele count reported in gnomAD v4.1 (AN 1,608,692) (gnomAD).

How is Severe congenital nemaline myopathy inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

NEB p.Arg7966=

c.23898A>G · rs2153102784 · VCV1087620

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,608,692)

Conditions

nemaline myopathy 2

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.096	moderately benign-leaning
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 6.2	GERP 2, phastCons 1
Overall
CADD	10.7	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,608,692). 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.Arg7966=
Coding: c.23898A>G
MANE Select: NM_018151 · reported on NM_001164508
dbSNP: rs2153102784
Type: single nucleotide variant
Location: chr2:151502823 (GRCh38)

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

Disease context

nemaline myopathy 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Severe congenital nemaline myopathy (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: <1 / 1 000 000 (Europe)

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-arg7966 (accessed [today's date]).

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