NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer) AND Bernard Soulier syndrome

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:: RCV002245375.2

Allele description [Variation Report for NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer)]

NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer)

HGVS:

NC_000017.11:g.4934040del
NG_008767.2:g.6746del
NM_000173.7:c.1436delMANE SELECT
NP_000164.5:p.Phe478_Leu479insTer
LRG_480t1:c.1436del
LRG_480:g.6746del
LRG_480p1:p.Phe478_Leu479insTer
NC_000017.10:g.4837335del
NM_000173.5:c.1432delT

Links:

dbSNP: rs1172767977

NCBI 1000 Genomes Browser:

rs1172767977

Molecular consequence:

NM_000173.7:c.1436del - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002515585	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	no assertion criteria provided	Likely pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002515585

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

no assertion criteria provided

Likely pathogenic

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	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, SCV002515585.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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