Variant
GP1BA V311Gfs*39
NM_000173.7(GP1BA):c.932_933del (p.Val311GlyfsTer39)
- p.Val311GlyfsTer39
- p.V311Gfs*39
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 6 November 2025
- 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
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Summary
V311Gfs*39 is a frameshift variant in GP1BA: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. 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 VCV004539004 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 6 November 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in GP1BA
V311Gfs*39 lies in exon 2 of the 2 in GP1BA's MANE Select transcript, NM_000173.7.
Molecular details
| Gene | GP1BA |
|---|---|
| Transcript | NM_000173.7MANE Select |
| Coding DNA change (HGVS c.) | c.932_933del |
| Protein change (HGVS p.) | p.Val311GlyfsTer39p.V311Gfs*39 |
| Predicted consequence | Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr17:4933533 CTG>C |
| Position (GRCh37) | chr17:4836828 CTG>C |
| ClinVar Variation ID | VCV004539004 (opens in a new tab) |
| ClinVar Allele ID | 4650522 |
| ClinVar name | NM_000173.7(GP1BA):c.932_933del (p.Val311fs) |
GP1BA V311Gfs*39 in other databases
Reports that look at this variant (1)
These Genome Test condition reports include V311Gfs*39 among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Inherited Platelet Function Disorders | Bernard-Soulier Syndrome | Autosomal recessive |
Other variants in GP1BA
- A318Pfs*17Likely pathogenic3 stars out of 4
- c.1077delLikely pathogenic3 stars out of 4
- C81RPathogenic3 stars out of 4
- C225RLikely pathogenic3 stars out of 4
- C225SPathogenic3 stars out of 4
- D79Efs*2Likely pathogenic3 stars out of 4
- D89Efs*63Likely pathogenic3 stars out of 4
- E347XLikely pathogenic3 stars out of 4
- E489Nfs*64Likely pathogenic3 stars out of 4
- F208Lfs*48Likely pathogenic3 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). GP1BA V311Gfs*39 (c.932_933del) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/gp1ba/variants/v311gfs39
Dante Labs. GP1BA V311Gfs*39 (c.932_933del) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gp1ba/variants/v311gfs39
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