Is NEB p.Arg7935= (c.23805A>G) pathogenic?

NEB p.Arg7935= (c.23805A>G) is classified Likely benign in NEB (ClinVar, Single submitter, 1 submitter; last evaluated 2022-12-20). Very rare (popmax 0.00669%, eas); Associated with nemaline myopathy 2.

What condition is associated with NEB p.Arg7935= (c.23805A>G)?

NEB p.Arg7935= (c.23805A>G) is associated with nemaline myopathy 2 (ClinVar).

How common is NEB p.Arg7935= (c.23805A>G) in the general population?

NEB p.Arg7935= (c.23805A>G) is very rare (popmax 0.00669%, eas) (gnomAD).

How is Severe congenital nemaline myopathy inherited?

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

NEB p.Arg7935=

c.23805A>G · rs1481356421 · VCV751961

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00669%, eas)

Conditions

nemaline myopathy 2

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.087	moderately benign-leaning
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 4.2	GERP 2.1, phastCons 1
Overall
CADD	7.388	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00669% East Asian · 3/44,854 alleles

Filtering AF 0.00177% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000892%

Overall 0.000248% 4/1,612,354 alleles · very rare exomes 3/1,460,186 · genomes 1/152,168 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00669%	14,951
Remaining individualsnot grpmax-eligible	0.0016%	62,402

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: NEB
Protein: p.Arg7935=
Coding: c.23805A>G
MANE Select: NM_001164508
dbSNP: rs1481356421
Type: single nucleotide variant
Location: chr2:151503379 (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-arg7935 (accessed [today's date]).

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