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NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) AND Macrothrombocytopenia

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001003918.6

Allele description [Variation Report for NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)]

NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)

Genes:
SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)
Other names:
NM_000407.5(GP1BB):c.127G>T; p.Gly43Trp
HGVS:
  • NC_000022.11:g.19723970G>T
  • NG_007974.1:g.5428G>T
  • NM_000407.5:c.127G>TMANE SELECT
  • NP_000398.1:p.Gly43Trp
  • LRG_478t1:c.127G>T
  • LRG_478:g.5428G>T
  • NC_000022.10:g.19711493G>T
  • NM_000407.4:c.127G>T
  • NR_037611.1:n.3867G>T
  • NR_037612.1:n.2371G>T
Protein change:
G43W
Links:
dbSNP: rs551140561
NCBI 1000 Genomes Browser:
rs551140561
Molecular consequence:
  • NM_000407.5:c.127G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037611.1:n.3867G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037612.1:n.2371G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Macrothrombocytopenia
Identifiers:
MedGen: C2751260; Human Phenotype Ontology: HP:0040185

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161873NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenicunknownresearch

PubMed (1)
[See all records that cite this PMID]

SCV002546505ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Uncertain significanceunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161873.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002546505.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 13, 2025