TERF2 p.Asp385=
c.1155C>T · VCV4930661
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.31 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP -0.81, phastCons 1 |
| Overall | ||
| CADD | 14.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/60,004 alleles
Filtering AF
0.00231%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00202%
Overall
0.00285%
46/1,614,080 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.005% | 20,001 |
| South Asian | 0.00439% | 22,773 |
| European (non-Finnish) | 0.00314% | 31,893 |
| Finnishnot grpmax-eligible | 0.00156% | 64,024 |
| African / African-American | 0.00133% | 74,926 |
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
- TERF2
- Protein
- p.Asp385=
- Coding
- c.1155C>T
- MANE Select
- NM_005652
- Type
- single nucleotide variant
- Location
- chr16:69366992 (GRCh38)
- Gene constraint
- LOEUF 0.444 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.36 · 18 PDB
- Residue 385
- the 'disordered' region
Similar variants
- TERF2 c.1341-42T>C Benign ★★ same type
- TERF2 c.1426+95C>T Benign ★★ same type
- TERF2 c.380-5C>T Benign ★★ same type
- TERF2 c.840+145C>T Benign ★★ same type
- TERF2 c.947+27G>A Benign ★★ same type
- TERF2 c.*142G>A Benign ★★ same type
- TERF2 c.*159C>T Benign ★★ same type
- TERF2 c.*220A>G Benign ★★ 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/terf2-p-asp385 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown