NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter) AND Increased mean platelet volume

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001003919.1

Allele description [Variation Report for NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter)]

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

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_000407.4(GP1BB):c.137G>A (p.Trp46Ter)
Other names:
W21*
HGVS:
  • NC_000022.11:g.19723980G>A
  • NG_007974.1:g.5438G>A
  • NM_000407.4:c.137G>A
  • NP_000398.1:p.Trp46Ter
  • LRG_478t1:c.137G>A
  • LRG_478:g.5438G>A
  • LRG_478p1:p.Trp46Ter
  • NC_000022.10:g.19711503G>A
  • NR_037611.1:n.3877G>A
  • NR_037612.1:n.2381G>A
Protein change:
W46*; TRP21TER
Links:
OMIM: 138720.0003; dbSNP: rs121909752
NCBI 1000 Genomes Browser:
rs121909752
Molecular consequence:
  • NR_037611.1:n.3877G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037612.1:n.2381G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000407.4:c.137G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Increased mean platelet volume
Synonyms:
Large platelets
Identifiers:
MedGen: C1096367; Human Phenotype Ontology: HP:0011877

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001161874NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedLikely pathogenicunknownresearch

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

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, SCV001161874.1

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

Last Updated: Sep 23, 2021

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