SRCAP c.306+272T>C
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 85.1%, 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 +272 | deep intronic (+272 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2.5 | GERP -0.57 |
| Non-coding constraint | Z -2.08 | 1 kb window · o/e 1.15 · regional · uncalibrated |
| Overall | ||
| CADD | 0.556 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
85.1%
African / African-American · 35,286/41,476 alleles
Filtering AF
84.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 84%
Overall
43.8%
66,610/152,090 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 85.1% | 1 |
| South Asian | 68.6% | 1 |
| Amishnot grpmax-eligible | 41.8% | 2 |
| Remaining individualsnot grpmax-eligible | 38.7% | 3 |
| Middle Eastern | 34.6% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 31.3% | 3 |
| Admixed American | 27.9% | 4 |
| European (non-Finnish) | 27% | 4 |
| Finnishnot grpmax-eligible | 23.2% | 4 |
| East Asian | 10.9% | 9 |
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
- SRCAP
- Coding
- c.306+272T>C
- MANE Select
- NM_006662
- dbSNP
- rs7197770
- Type
- single nucleotide variant
- Location
- chr16:30704587 (GRCh38)
- Gene constraint
- LOEUF 0.223 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- SRCAP p.Arg2329Ter Pathogenic/Likely pathogenic ★★ same type
- SRCAP p.Arg2435Ter Pathogenic/Likely pathogenic ★★ same type
- SRCAP p.Arg2444Ter Pathogenic ★★ same type
- SRCAP p.Arg2718Ter Pathogenic/Likely pathogenic ★★ same type
- SRCAP p.Arg2748Ter Pathogenic ★★ same type
- SRCAP p.Gln2407Ter Pathogenic ★★ same type
- SRCAP p.Gln2419Ter Pathogenic ★★ same type
- SRCAP p.Gln2665Ter 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/srcap-c-306-plus-272t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown