NM_000173.7(GP1BA):c.104del (p.Lys35fs) AND Bernard Soulier syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 14, 2017
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:: RCV000627049.2

Allele description [Variation Report for NM_000173.7(GP1BA):c.104del (p.Lys35fs)]

NM_000173.7(GP1BA):c.104del (p.Lys35fs)

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.104del (p.Lys35fs)

HGVS:

NC_000017.11:g.4932708del
NG_008767.2:g.5414del
NM_000173.7:c.104delMANE SELECT
NP_000164.5:p.Lys35fs
LRG_480t1:c.104del
LRG_480:g.5414del
LRG_480p1:p.Lys35fs
NC_000017.10:g.4836002del
NC_000017.10:g.4836003del
NM_000173.6:c.104del
p.(Lys35Argfs*4)

Protein change:

K35fs

Links:

dbSNP: rs1555549041

NCBI 1000 Genomes Browser:

rs1555549041

Molecular consequence:

NM_000173.7:c.104del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000747754	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 14, 2017)	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

SCV000747754

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 14, 2017)

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	not provided	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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000747754.2

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

Description

This heterozygous variant in the GP1BA gene was found in a patient with suspicion of Bernard Soulier syndrome, which can be transmitted in an autosomal recessive or dominant manner.

#	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: Sep 29, 2024

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