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NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Sep 13, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000016040.4
Variation ID:
16040
Description:
single nucleotide variant
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NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter)

Allele ID
31079
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 19723980 (GRCh38) GRCh38 UCSC
22: 19711503 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_478:g.5438G>A
LRG_478t1:c.137G>A LRG_478p1:p.Trp46Ter
NC_000022.10:g.19711503G>A
... more HGVS
Protein change
W46*
Other names
W21*
Canonical SPDI
NC_000022.11:19723979:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA126158
OMIM: 138720.0003
dbSNP: rs121909752
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 1, 2019 RCV000851693.1
Pathogenic 1 no assertion criteria provided Jul 15, 2000 RCV000017415.26
Likely pathogenic 1 no assertion criteria provided - RCV001003919.1
Likely pathogenic 1 no assertion criteria provided - RCV001003920.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GP1BB - - GRCh38
GRCh37
1 425
SEPT5-GP1BB - - - GRCh38 - 221

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Thrombocytopenia
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899493.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jul 15, 2000)
no assertion criteria provided
Method: literature only
BERNARD SOULIER SYNDROME, TYPE B
Allele origin: germline
OMIM
Accession: SCV000037687.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Increased mean platelet volume
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001161874.1
Submitted: (Sep 13, 2019)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Macrothrombocytopenia
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001161875.1
Submitted: (Sep 13, 2019)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Whole-genome sequencing of patients with rare diseases in a national health system. Turro E Nature 2020 PMID: 32581362
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749
Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. Moran N Blood 2000 PMID: 10887115

Text-mined citations for rs121909752...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 23, 2021