CISD2 p.Asp68=
c.204T>C · rs1733852380 · VCV2000570
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)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.075 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.34 | GERP -3.6, phastCons 0.3 |
| Overall | ||
| CADD | 11.06 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,926 alleles
Overall
6.84e-05%
1/1,461,734 alleles · very rare
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
- CISD2
- Protein
- p.Asp68=
- Coding
- c.204T>C
- MANE Select
- NM_001008388
- dbSNP
- rs1733852380
- Type
- single nucleotide variant
- Location
- chr4:102885316 (GRCh38)
- Gene constraint
- LOEUF 0.437 · pLI 0.97 (gnomAD)
- Structure
- AlphaFold pLDDT 90.19 · 4 PDB
Similar variants
- CISD2 c.103+6C>A Uncertain significance ★★ same type
- CISD2 p.Arg57Cys Uncertain significance ★★ ⚠ same type
- CISD2 p.Arg57His Uncertain significance ★★ ⚠ same type
- CISD2 p.Asn87Ser Uncertain significance ★★ ⚠ same type
- CISD2 p.Glu4Gln Uncertain significance ★★ ⚠ same type
- CISD2 p.Pro61Leu Uncertain significance ★★ ⚠ same type
- CISD2 p.Pro80Leu Uncertain significance ★★ ⚠ same type
- CISD2 p.Thr28Ile 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/cisd2-p-asp68 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown