Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 23%, amr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +243 | deep intronic (+243 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.93 | GERP 0.052, phastCons 0.007 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
| Overall | ||
| CADD | 2.742 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
23%
Admixed American · 2,399/10,408 alleles
Filtering AF
22.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 22%
Overall
11.6%
12,925/111,716 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 23% | 4 |
| Remaining individualsnot grpmax-eligible | 15.1% | 7 |
| South Asian | 15% | 7 |
| Middle Eastern | 12.1% | 8 |
| African / African-American | 12.1% | 8 |
| Ashkenazi Jewishnot grpmax-eligible | 12.1% | 8 |
| European (non-Finnish) | 10.3% | 10 |
| Amishnot grpmax-eligible | 4.95% | 20 |
| Finnishnot grpmax-eligible | 3.94% | 25 |
| East Asian | 2.07% | 48 |
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
- DMD
- Coding
- c.186+243T>C
- MANE Select
- NM_004006
- dbSNP
- rs989355
- Type
- single nucleotide variant
- Location
- chrX:32849485 (GRCh38)
Similar variants
- DMD c.10086+1G>A Pathogenic ★★ same type
- DMD c.10086+1G>T Pathogenic ★★ same type
- DMD c.10086+2T>C Pathogenic ★★ same type
- DMD c.10087-2A>G Pathogenic/Likely pathogenic ★★ same type
- DMD c.10223+1G>A Pathogenic ★★ same type
- DMD c.10223+1G>C Pathogenic ★★ same type
- DMD c.10224-2A>G Likely pathogenic ★★ same type
- DMD c.10554-2A>G Pathogenic/Likely pathogenic ★★ same type
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/dmd-c-186-plus-243t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown