TERF2 p.Val307=
c.921G>A · rs33916934 · VCV790710
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 5.68%, afr) — too common for a highly-penetrant pathogenic allele
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 1.1 | GERP -0.94, phastCons 1 |
| Overall | ||
| CADD | 9.664 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.68%
African / African-American · 4,261/74,996 alleles
Filtering AF
5.54%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.48%
Overall
0.299%
4,827/1,614,020 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.68% | 18 |
| Middle Eastern | 0.433% | 231 |
| Remaining individualsnot grpmax-eligible | 0.384% | 260 |
| Admixed American | 0.32% | 313 |
| South Asian | 0.0154% | 6,505 |
| European (non-Finnish) | 0.00797% | 12,553 |
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.Val307=
- Coding
- c.921G>A
- MANE Select
- NM_005652
- dbSNP
- rs33916934
- Type
- single nucleotide variant
- Location
- chr16:69368402 (GRCh38)
- Gene constraint
- LOEUF 0.444 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.36 · 18 PDB
- Residue 307
- 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-val307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown