NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) AND Macrothrombocytopenia

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001003916.1

Allele description [Variation Report for NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)]

NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)

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.47T>C (p.Leu16Pro)

HGVS:

NC_000022.11:g.19723890T>C
NG_007974.1:g.5348T>C
NM_000407.5:c.47T>CMANE SELECT
NP_000398.1:p.Leu16Pro
NP_000398.1:p.Leu16Pro
LRG_478t1:c.47T>C
LRG_478:g.5348T>C
LRG_478p1:p.Leu16Pro
NC_000022.10:g.19711413T>C
NM_000407.4:c.47T>C
NR_037611.1:n.3787T>C
NR_037612.1:n.2291T>C

Protein change:

L16P

Links:

dbSNP: rs1601248210

NCBI 1000 Genomes Browser:

rs1601248210

Molecular consequence:

NM_000407.5:c.47T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_037611.1:n.3787T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037612.1:n.2291T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001161871	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001161871

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	3	not provided	not provided	3	not provided	research

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, SCV001161871.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)
2	not provided	1	not provided	not provided	research	PubMed (1)
3	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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