NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) AND Bernard-Soulier syndrome, type A2, autosomal dominant

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:: RCV002245409.2

Allele description [Variation Report for NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr)]

NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr)

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.98G>A (p.Cys33Tyr)

HGVS:

NC_000017.11:g.4932702G>A
NG_008767.2:g.5408G>A
NM_000173.7:c.98G>AMANE SELECT
NP_000164.5:p.Cys33Tyr
LRG_480t1:c.98G>A
LRG_480:g.5408G>A
LRG_480p1:p.Cys33Tyr
NC_000017.10:g.4835997G>A
NM_000173.5:c.98G>A

Protein change:

C33Y

Links:

dbSNP: rs1597638300

NCBI 1000 Genomes Browser:

rs1597638300

Molecular consequence:

NM_000173.7:c.98G>A - 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
SCV002515648	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	no assertion criteria provided	Likely pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002515648

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

no assertion criteria provided

Likely pathogenic

germline

research

Help

Summary from all submissions

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

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515648.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	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		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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