NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) AND Bernard-Soulier syndrome, type A2, autosomal dominant

Germline classification:: Likely 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:: RCV002280911.3

Allele description [Variation Report for NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu)]

NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu)

Gene:

GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu)

HGVS:

NC_000017.11:g.4932741C>T
NG_008767.2:g.5447C>T
NM_000173.7:c.137C>TMANE SELECT
NP_000164.5:p.Pro46Leu
LRG_480t1:c.137C>T
LRG_480:g.5447C>T
LRG_480p1:p.Pro46Leu
NC_000017.10:g.4836036C>T
NM_000173.5:c.137C>T

Protein change:

P46L

Links:

dbSNP: rs760759446

NCBI 1000 Genomes Browser:

rs760759446

Molecular consequence:

NM_000173.7:c.137C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bernard-Soulier syndrome, type A2, autosomal dominant (BSSA2)
Synonyms:: Bernard-Soulier syndrome, type A2 (dominant)
Identifiers:: MONDO: MONDO:0007930; MedGen: C3277076; Orphanet: 274; OMIM: 153670

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002569330	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely 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

SCV002569330

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely 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	yes	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, SCV002569330.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	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: Jun 23, 2024

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