Variant
GP1BB S48X
NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter)
- p.Ser48Ter
- p.S48*
- rs536874549
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 4 June 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-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
S48X is a nonsense variant in GP1BB: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. 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 SyndromeClinVar VCV000627237 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 4 June 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in GP1BB
S48X lies in exon 2 of the 2 in GP1BB's MANE Select transcript, NM_000407.5.
Molecular details
| Gene | GP1BB |
|---|---|
| Transcript | NM_000407.5MANE Select |
| Coding DNA change (HGVS c.) | c.143C>A |
| Protein change (HGVS p.) | p.Ser48Terp.S48* |
| Predicted consequence | Nonsense (stop gained)stop_gained (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr22:19723986 C>A |
| Position (GRCh37) | chr22:19711509 C>A |
| dbSNP ID | rs536874549 (opens in a new tab) |
| ClinVar Variation ID | VCV000627237 (opens in a new tab) |
| ClinVar Allele ID | 615640 |
| ClinGen Allele Registry ID | CA322079870 (opens in a new tab) |
| ClinVar name | NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter) |
GP1BB S48X in other databases
Reports that look at this variant (1)
These Genome Test condition reports include S48X among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Inherited Platelet Function Disorders | Bernard-Soulier Syndrome | Autosomal recessive |
Other variants in GP1BB
- A105Pfs*88Likely pathogenic3 stars out of 4
- A150Rfs*43Likely pathogenic3 stars out of 4
- A156Gfs*153Likely pathogenic3 stars out of 4
- c.1A>TLikely pathogenic3 stars out of 4
- C30YLikely pathogenic3 stars out of 4
- C32XLikely pathogenic3 stars out of 4
- C141XPathogenic3 stars out of 4
- C147SLikely pathogenic3 stars out of 4
- E136XLikely pathogenic3 stars out of 4
- G106Afs*87Pathogenic3 stars out of 4
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
Dante Labs. (16 October 2026). GP1BB S48X (c.143C>A, rs536874549) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/gp1bb/variants/s48x
Dante Labs. GP1BB S48X (c.143C>A, rs536874549) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gp1bb/variants/s48x
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