Is SUN2 p.Gln608= (c.1824A>G) pathogenic?

SUN2 p.Gln608= (c.1824A>G) is classified Benign in SUN2 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-02-02). Common (popmax 51.4%, afr) — too common for a highly-penetrant pathogenic allele; Associated with Emery-Dreifuss muscular dystrophy.

What condition is associated with SUN2 p.Gln608= (c.1824A>G)?

SUN2 p.Gln608= (c.1824A>G) is associated with Emery-Dreifuss muscular dystrophy (ClinVar).

How is Emery-Dreifuss muscular dystrophy inherited?

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

SUN2 p.Gln608=

Q: How common is SUN2 p.Gln608= (c.1824A>G) in the general population?

SUN2 p.Gln608= (c.1824A>G) is common (popmax 51.4%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.1824A>G · rs1062687 · VCV1170297

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Common

common (popmax 51.4%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

Emery-Dreifuss muscular dystrophy

⚠ 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.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.81	GERP -0.78, phastCons 1
Overall
CADD	14.86	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 51.4% African / African-American · 38,504/74,976 alleles

Filtering AF 50.9% ClinGen BA1/BS1 input FAF95, joint · FAF99 50.7%

Overall 31.1% 501,725/1,613,404 alleles · common exomes 446,466/1,461,296 · genomes 55,259/152,108 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	51.4%	2
East Asian	48.8%	2
Amishnot grpmax-eligible	40.5%	2
Finnishnot grpmax-eligible	33.7%	3
Remaining individualsnot grpmax-eligible	31.2%	3
Middle Eastern	29.7%	3
European (non-Finnish)	29.7%	3
Ashkenazi Jewishnot grpmax-eligible	28.9%	3
South Asian	28%	4
Admixed American	23.2%	4

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: SUN2
Protein: p.Gln608=
Coding: c.1824A>G
MANE Select: NM_015374
dbSNP: rs1062687
Type: single nucleotide variant
Location: chr22:38738710 (GRCh38)

Full SUN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Emery-Dreifuss muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Emery-Dreifuss muscular dystrophy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Childhood
Prevalence: 1-9 / 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/sun2-p-gln608 (accessed [today's date]).

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