SLC26A2 p.Phe709=
c.2127C>T · rs1214872363 · VCV2946071
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
Conditions
4
achondrogenesis type IB
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 1.2 | GERP 0.6, phastCons 1 |
| Overall | ||
| CADD | 6.927 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,362 alleles
Overall
6.2e-05%
1/1,612,010 alleles · very rare
exomes 1/1,459,770 · genomes 0/152,240 · 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
- SLC26A2
- Protein
- p.Phe709=
- Coding
- c.2127C>T
- MANE Select
- NM_000112
- dbSNP
- rs1214872363
- Type
- single nucleotide variant
- Location
- chr5:149981720 (GRCh38)
- Gene constraint
- LOEUF 1.091 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.97 · 4 PDB
- Residue 709
- a β-strand; the stas domain
Similar variants
- SLC26A2 p.Phe709fs Likely pathogenic ★ same residue
- SLC26A2 c.700-1G>C Pathogenic/Likely pathogenic ★★ same condition
- SLC26A2 c.-26+2T>C Pathogenic ★★ same condition
- SLC26A2 p.Ala386Val Pathogenic/Likely pathogenic ★★ same condition
- SLC26A2 p.Ala715Val Pathogenic/Likely pathogenic ★★ same condition
- SLC26A2 p.Arg178Ter Pathogenic ★★ same condition
- SLC26A2 p.Arg279Trp Pathogenic/Likely pathogenic ★★ same condition
- SLC26A2 p.Asn425Asp 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/slc26a2-p-phe709 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown