TTN p.Pro30488=
c.91464T>G · rs780989266 · VCV2437865
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000339%, nfe)
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 0.13 | GERP -0.56, phastCons 0.13 |
| Overall | ||
| CADD | 0.265 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000339%
European (non-Finnish) · 4/1,179,620 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000274%
4/1,461,136 alleles · very rare
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
- TTN
- Protein
- p.Pro30488=
- Coding
- c.91464T>G
- MANE Select
- NM_001267550
- dbSNP
- rs780989266
- Type
- single nucleotide variant
- Location
- chr2:178551067 (GRCh38)
- Gene constraint
- LOEUF 0.479 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Residue 30488
- the fibronectin type-iii 122 domain
Similar variants
- TTN c.100171+1G>A Likely pathogenic ★★ same type
- TTN c.100766-1G>T Likely pathogenic ★★ same type
- TTN c.100766-2A>T Likely pathogenic ★★ same type
- TTN c.106375-2A>G Pathogenic/Likely pathogenic ★★ same type
- TTN c.106531+1G>A Pathogenic/Likely pathogenic ★★ same type
- TTN c.107224-1G>C Pathogenic/Likely pathogenic ★★ same type
- TTN c.107377+1G>A Pathogenic/Likely pathogenic ★★ same type
- TTN c.107377+1G>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/ttn-p-pro30488 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown