DTL p.Arg715=
c.2145A>G · rs114671787 · VCV721138
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.22%, afr)
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 0.9 | GERP -0.71, phastCons 0.98 |
| Overall | ||
| CADD | 7.813 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.22%
African / African-American · 916/74,952 alleles
Filtering AF
1.16%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.13%
Overall
0.0635%
1,025/1,612,958 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.22% | 82 |
| Admixed American | 0.095% | 1,052 |
| Remaining individualsnot grpmax-eligible | 0.0593% | 1,688 |
| South Asian | 0.00549% | 18,202 |
| European (non-Finnish) | 0.000848% | 117,918 |
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
- DTL
- Protein
- p.Arg715=
- Coding
- c.2145A>G
- MANE Select
- NM_016448
- dbSNP
- rs114671787
- Type
- single nucleotide variant
- Location
- chr1:212102892 (GRCh38)
- Gene constraint
- LOEUF 0.635 · pLI 0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.29 · 5 PDB
Similar variants
- DTL p.Ala210Val Uncertain significance ★ same type
- DTL p.Ala474Gly Uncertain significance ★ ⚠ same type
- DTL p.Arg389Ser Uncertain significance ★ ⚠ same type
- DTL p.Arg482Lys Uncertain significance ★ ⚠ same type
- DTL p.Arg502Gly Uncertain significance ★ ⚠ same type
- DTL p.Arg670Gln Uncertain significance ★ ⚠ same type
- DTL p.Arg670Trp Uncertain significance ★ ⚠ same type
- DTL p.Arg678Gln Uncertain significance ★ ⚠ 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/dtl-p-arg715 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown