TCAP p.Arg18=
c.54G>C · rs754054712 · VCV995305
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00801%, afr)
Conditions
4
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.18 | GERP -4.7, phastCons 0.44 |
| Overall | ||
| CADD | 6.093 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00801%
African / African-American · 6/74,890 alleles
Filtering AF
0.00347%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00229%
Overall
0.000372%
6/1,613,652 alleles · very rare
exomes 1/1,461,518 · genomes 5/152,134 · joint denominator
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
- TCAP
- Protein
- p.Arg18=
- Coding
- c.54G>C
- MANE Select
- NM_003673
- dbSNP
- rs754054712
- Type
- single nucleotide variant
- Location
- chr17:39665413 (GRCh38)
- Gene constraint
- LOEUF 1.374 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.89 · 2 PDB
- Residue 18
- a turn
Similar variants
- TCAP p.Arg18Gln Uncertain significance ★★ ⚠ same residue
- TCAP p.Arg18Trp Uncertain significance ★★ ⚠ same residue
- TCAP p.Arg18fs Pathogenic ★ same residue
- TCAP c.110+5G>T Likely pathogenic ★★ same condition
- TCAP p.Cys57Ter Pathogenic/Likely pathogenic ★★ same condition
- TCAP p.Gln53Ter Pathogenic/Likely pathogenic ★★ same condition
- TCAP p.Glu35Ter Pathogenic ★★ same condition
- TCAP p.Trp22Ter Pathogenic/Likely pathogenic ★★ same condition
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/tcap-p-arg18 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown