DST c.1872+73A>G
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 93.2%, 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 +73 | deep intronic (+73 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.8 | GERP -3.8 |
| Non-coding constraint | Z 1.47 | 1 kb window · o/e 0.89 · regional · uncalibrated |
| Overall | ||
| CADD | 5.251 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
93.2%
African / African-American · 60,981/65,434 alleles
Filtering AF
92.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 92.3%
Overall
64.4%
716,487/1,113,148 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 93.2% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 72.4% | 1 |
| Amishnot grpmax-eligible | 66.5% | 2 |
| Remaining individualsnot grpmax-eligible | 66.1% | 2 |
| South Asian | 66% | 2 |
| European (non-Finnish) | 63% | 2 |
| Middle Eastern | 62% | 2 |
| Finnishnot grpmax-eligible | 58.6% | 2 |
| Admixed American | 57.9% | 2 |
| East Asian | 51.4% | 2 |
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
- DST
- Coding
- c.1872+73A>G
- MANE Select
- NM_001374736
- dbSNP
- rs1024195
- Type
- single nucleotide variant
- Location
- chr6:56642337 (GRCh38)
- Gene constraint
- LOEUF 0.297 · pLI 1.00 (gnomAD)
Similar variants
- DST c.22959+1G>A Likely pathogenic ★★ same type
- DST p.Arg1512Ter Pathogenic/Likely pathogenic ★★ same type
- DST p.Arg1696Ter Pathogenic/Likely pathogenic ★★ same type
- DST p.Arg22Ter Likely pathogenic ★★ same type
- DST p.Arg7329Ter Pathogenic ★★ same type
- DST p.Cys1828Ter Pathogenic/Likely pathogenic ★★ same type
- DST p.Gln1124Ter Pathogenic/Likely pathogenic ★★ same type
- DST p.Gln1366Ter 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/dst-c-1872-plus-73a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown