--- title: "GP1BB N89D (c.265A>G) | Dante Labs" description: "ClinVar classifies GP1BB N89D as Likely pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/gp1bb/variants/n89d" --- 1. [Genes](https://dantelabs.com/genes) 2. [GP1BB](https://dantelabs.com/genes/gp1bb) 3. GP1BB N89D Variant # GP1BB N89D NM_000407.5(GP1BB):c.265A>G (p.Asn89Asp) Also known as - p.Asn89Asp - p.N89D * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 2 April 2026 * Expert panel ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary N89D is a missense variant in GP1BB: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Bernard-Soulier Syndrome (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | ----------------------------------------- | ------------ | -------------- | | [Bernard-Soulier Syndrome](https://dantelabs.com/conditions/inherited-platelet-function-disorders) [ClinVar VCV004849247 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/4849247/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 2 April 2026 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in GP1BB N89D lies in exon 2 of the 2 in GP1BB's MANE Select transcript, NM_000407.5. [GP1BB variants in exon 2 →](https://dantelabs.com/genes/gp1bb/variants?exon=2) [GP1BB's gene diagram →](https://dantelabs.com/genes/gp1bb#gene-structure) ## Molecular details | Gene | [GP1BB](https://dantelabs.com/genes/gp1bb) | | --------------------------- | -------------------------------------------------------------------------------------------- | | Transcript | NM_000407.5 MANE Select | | Coding DNA change (HGVS c.) | c.265A>G | | Protein change (HGVS p.) | p.Asn89Asp p.N89D | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr22:19724108 A>G | | Position (GRCh37) | chr22:19711631 A>G | | ClinVar Variation ID | [VCV004849247 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/4849247/) | | ClinVar Allele ID | 4960303 | | ClinVar name | NM_000407.5(GP1BB):c.265A>G (p.Asn89Asp) | ## GP1BB N89D in other databases - [ClinVar VCV004849247 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/4849247/) - [gnomAD 22-19724108-A-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/22-19724108-A-G?dataset=gnomad_r4) - [Ensembl 22-19724108-A-G (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Location/View?r=22:19724108-19724108) ## Reports that look at this variant (1) These Genome Test condition reports include N89D among the variants they look at. | Report | Conditions | Inheritance | | --------------------------------------------------------------------------------------------------------------- | ------------------------ | ------------------- | | [Inherited Platelet Function Disorders](https://dantelabs.com/conditions/inherited-platelet-function-disorders) | Bernard-Soulier Syndrome | Autosomal recessive | ## Other variants in GP1BB - [A105Pfs\*88 Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/a105pfs88) - [A150Rfs\*43 Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/a150rfs43) - [A156Gfs\*153 Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/a156gfs153) - [c.1A>T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/c-1a-t) - [C30Y Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/c30y) - [C32X Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/c32x) - [C141X Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/c141x) - [C147S Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/c147s) - [E136X Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/e136x) - [G106Afs\*87 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gp1bb/variants/g106afs87) [All GP1BB variants](https://dantelabs.com/genes/gp1bb/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). GP1BB N89D (c.265A>G) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/gp1bb/variants/n89d Vancouver > Dante Labs. GP1BB N89D (c.265A>G) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/gp1bb/variants/n89d Download citation [RIS](https://dantelabs.com/genes/gp1bb/variants/n89d/cite.ris) [BibTeX](https://dantelabs.com/genes/gp1bb/variants/n89d/cite.bib) [CSL-JSON](https://dantelabs.com/genes/gp1bb/variants/n89d/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)