NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) AND Bernard-Soulier syndrome, type B

Clinical significance:Pathogenic (Last evaluated: Jul 15, 2000)

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:
RCV000017415.26

Allele description [Variation Report for NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)]

NM_000407.5(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_000407.5(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
  • NM_000407.5:c.137G>AMANE SELECT
  • NP_000398.1:p.Trp46Ter
  • 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]
  • NM_000407.5:c.137G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Bernard-Soulier syndrome, type B
Synonyms:
Bernard-Soulier syndrome
Identifiers:
MedGen: C1856447

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037687OMIMno assertion criteria providedPathogenic
(Jul 15, 2000)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.

Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D.

Blood. 2000 Jul 15;96(2):532-9.

PubMed [citation]
PMID:
10887115

Details of each submission

From OMIM, SCV000037687.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with Bernard-Soulier syndrome (231200), Moran et al. (2000) found a G-to-A transition at nucleotide 159 of the GP1BB gene, resulting in a premature termination of translation at amino acid trp21. The patient was a 57-year-old Irish man with a severe bleeding diathesis. The diagnosis of BSS was based on the presence of thrombocytopenia, large platelets on peripheral blood smear, and a profuse bleeding tendency requiring transfusion. Bleeding occurred both spontaneously and after minor surgical procedures. The spontaneous bleeding apparently stopped when the patient was about 20 years of age, but the thrombocytopenia persisted. The patient's bleeding time was longer than 15 minutes. The patient's parents were first cousins and had no history of abnormal bleeding. The mutation was present in homozygous form. Moran et al. (2000) stated that this was the first report of homozygosity for a mutation in the GP1BB gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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