DENND2B p.Pro944=
c.2832C>T · rs768850137 · VCV754395
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00724%, amr)
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 1.6 | GERP -1.3, phastCons 1 |
| Overall | ||
| CADD | 7.719 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00724%
Admixed American · 4/55,252 alleles
Filtering AF
0.00239%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00144%
Overall
0.00169%
27/1,602,022 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00724% | 13,813 |
| Remaining individualsnot grpmax-eligible | 0.00323% | 30,955 |
| European (non-Finnish) | 0.00161% | 61,950 |
| Finnishnot grpmax-eligible | 0.00156% | 63,928 |
| African / African-American | 0.00136% | 73,792 |
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
- DENND2B
- Protein
- p.Pro944=
- Coding
- c.2832C>T
- MANE Select
- NM_213618
- dbSNP
- rs768850137
- Type
- single nucleotide variant
- Location
- chr11:8699279 (GRCh38)
- Gene constraint
- LOEUF 0.373 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 58.86
- Residue 944
- the cdenn domain
Similar variants
- DENND2B p.Arg312Gln Uncertain significance ★★ ⚠ same type
- DENND2B c.3379+7G>A Benign ★★ same type
- DENND2B c.81-4C>A Benign/Likely benign ★★ same type
- DENND2B p.Ala823Thr Benign ★★ same type
- DENND2B p.Arg250Gln Benign ★★ same type
- DENND2B p.His670= Benign ★★ same type
- DENND2B p.Pro420= Benign ★★ same type
- DENND2B p.Ala113Gly 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/dennd2b-p-pro944 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown