NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) AND Bernard Soulier syndrome

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002222630.4

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:: Bernard Soulier syndrome (BSS)
Synonyms:: GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF; PLATELET GLYCOPROTEIN Ib DEFICIENCY; Giant platelet syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009276; MeSH: D001606; MedGen: C0005129; Orphanet: 274; OMIM: 231200

Recent activity

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Mus musculus
Mus musculus
Transcriptome Data of Peritoneal Macrophages Isolated from ApoE-/-/Ch25h-/- Mice

BioProject
her4.2 hairy-related 4, tandem duplicate 2 [Danio rerio]
her4.2 hairy-related 4, tandem duplicate 2 [Danio rerio]
Gene ID:100148329

Gene
Uridine Triphosphate
Uridine Triphosphate
Uridine 5'-(tetrahydrogen triphosphate). A uracil nucleotide containing three phosphate groups esterified to the sugar moiety.<br/>Year introduced: 1990(1978)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002500883	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002500883

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002500883.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: May 7, 2024

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