DSP c.422+32C>G
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 8.24%, afr) — 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 +32 | near-intronic (+32 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.24 | GERP -0.92 |
| Overall | ||
| CADD | 1.912 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.24%
African / African-American · 6,150/74,598 alleles
Filtering AF
8.07%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 8%
Overall
0.459%
7,358/1,603,400 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 8.24% | 12 |
| Remaining individualsnot grpmax-eligible | 0.602% | 166 |
| Admixed American | 0.51% | 196 |
| South Asian | 0.477% | 210 |
| Middle Eastern | 0.381% | 262 |
| European (non-Finnish) | 0.00715% | 13,978 |
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
- DSP
- Coding
- c.422+32C>G
- MANE Select
- NM_004415
- dbSNP
- rs75293156
- Type
- single nucleotide variant
- Location
- chr6:7558296 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- DSP c.1141-2A>G Likely pathogenic ★★ same type
- DSP c.1141-2A>T Likely pathogenic ★★ same type
- DSP c.1266+2T>C Likely pathogenic ★★ same type
- DSP c.1574+1G>A Likely pathogenic ★★ same type
- DSP c.2130+1G>A Pathogenic/Likely pathogenic ★★ same type
- DSP c.2297+1G>A Likely pathogenic ★★ same type
- DSP c.2298-1G>C Likely pathogenic ★★ same type
- DSP c.2298-2A>C 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/dsp-c-422-plus-32c-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown