NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) AND Bernard Soulier syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 2, 2022
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:: RCV002227298.3

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 (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
SCV002505675	Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto	no assertion criteria provided	Likely pathogenic (May 2, 2022)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505675

Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto

no assertion criteria provided

Likely pathogenic
(May 2, 2022)

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 Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto, SCV002505675.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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: Jun 23, 2024

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