# NM_001048225.2:c.95C>A

https://sugi.bio/variant/dbndd2-c-95c-a

## Summary

**DBNDD2 c.95C>A** is classified **Uncertain significance** in DBNDD2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-12).

**At a glance:** Uncertain significance · review: Single submitter · 1 submitter

## For patients & families {#patients}

This is a change in the DBNDD2 gene that is currently of uncertain significance — a definitive interpretation has not yet been established, submitted by 1 submitter.

*Reference information, not medical advice, and not a prediction for any individual. A genetic counselor or clinician can interpret what it means for you and your family.*

**Support & next steps:** [Find a genetic counselor (NSGC)](https://findageneticcounselor.nsgc.org/).

## Identity {#identity}

| Field | Value |
| --- | --- |
| Gene | [DBNDD2](https://sugi.bio/atlas/gene/DBNDD2/) |
| Coding change (HGVS c.) | c.95C>A |
| MANE Select transcript | [NM_001048225](https://www.ncbi.nlm.nih.gov/nuccore/NM_001048225) |
| Variant type | single nucleotide variant |
| ClinVar | [VCV4658536](https://www.ncbi.nlm.nih.gov/clinvar/variation/4658536/) |

## Gene constraint & dosage {#gene-context}

**DBNDD2** population constraint: LOEUF 1.061, pLI 0.022114, missense-Z 0.25679. *Lower LOEUF and higher pLI indicate a gene that tolerates loss-of-function poorly; ClinGen dosage is the curated haploinsufficiency call.*

## Protein context {#protein}


AlphaFold model confidence (whole protein): pLDDT 60.09, 3% of residues very-high.

## Clinical significance {#significance}

**Uncertain significance** — review status Single submitter *(criteria provided, single submitter)*, last evaluated 2025-11-12.

**Submitter consensus:** unanimous (1/1 Uncertain significance).

### Submitter classifications {#submitters}

| Submitter | Classification | Review | Method | Date |
| --- | --- | --- | --- | --- |
| Ambry Genetics | Uncertain significance | criteria provided, single submitter | clinical testing | 2025-11-12 |

**Reported phenotype names (ClinVar):** not specified, AllHighlyPenetrant.

## Similar variants {#similar}

Related DBNDD2 variant pages (same residue, condition, or type): [DBNDD2 c.78G>T](/variant/dbndd2-c-78g-t), [DBNDD2 c.-146C>T](/variant/dbndd2-c-minus-146c-t), [DBNDD2 c.-15C>A](/variant/dbndd2-c-minus-15c-a), [DBNDD2 c.-29G>T](/variant/dbndd2-c-minus-29g-t), [DBNDD2 c.-32C>T](/variant/dbndd2-c-minus-32c-t), [DBNDD2 c.-5C>A](/variant/dbndd2-c-minus-5c-a), [DBNDD2 c.-5C>T](/variant/dbndd2-c-minus-5c-t), [DBNDD2 c.-69G>C](/variant/dbndd2-c-minus-69g-c).

### Data sources & attribution {#sources}

ClinVar (NCBI — public domain, built 2026-10-11); gnomAD v4.1 (Broad Institute, built 2026-10-06); AlphaMissense (Cheng et al. 2023, © Google DeepMind — CC BY 4.0, built 2026-01-27); REVEL (Ioannidis et al. 2016 — ODbL, built 2026-07-13); SaProt (Su et al. 2023 — MIT, built 2026-07-14); SpliceAI (Illumina — free for non-commercial use, built 2026-10-13); CADD (Rentzsch et al. 2019, University of Washington — free for non-commercial use, built 2026-10-10); Conservation (phyloP/phastCons/GERP) (UCSC hg38 470-way mammal (Hiller Lab) + Ensembl Compara, built 2026-07-12); gnomAD Non-coding Constraint (Gnocchi) (Chen et al. 2024, Broad Institute — CC0, built 2026-10-11); gnomAD Regional Missense Constraint (Broad Institute — CC0, built 2026-10-13); Pangolin (Zeng & Li 2022 — CC BY 4.0, built 2026-10-11); Repeat regions (UCSC — RepeatMasker, TRF, segmental duplications, built 2026-10-11); ClinGen (ClinGen, built 2026-09-22); UniProt (CC BY 4.0); Reactome / GO (CC BY 4.0, built 2026-09-23); MaveDB (per-record license, built 2026-10-11); CIViC (CC0, built 2026-09-22); Orphanet (Orphanet, built 2026-06-12)

*Primary record: NCBI ClinVar (variation 4658536). Classifications reflect these databases as of the page's build date and may change. Free reference use — not medical advice; consult the primary submitters and a clinician.*