NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs) 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:: RCV002226812.3

Allele description [Variation Report for NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs)]

NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs)

Genes:

LOC130060044:ATAC-STARR-seq lymphoblastoid active region 11554 [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.1845_1848del (p.Asn616fs)

HGVS:

NC_000017.11:g.4934449_4934452del
NG_008767.2:g.7155_7158del
NM_000173.7:c.1845_1848delMANE SELECT
NP_000164.5:p.Asn616fs
LRG_480t1:c.1845_1848del
LRG_480:g.7155_7158del
LRG_480p1:p.Asn616fs
NC_000017.10:g.4837744_4837747del
NM_000173.5:c.1845_1848del

Protein change:

N616fs

Links:

dbSNP: rs2151108738

NCBI 1000 Genomes Browser:

rs2151108738

Molecular consequence:

NM_000173.7:c.1845_1848del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

Unknown function

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
SCV002505670	Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto	no assertion criteria provided	Likely pathogenic (May 2, 2022)	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002505670

Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto

no assertion criteria provided

Likely pathogenic
(May 2, 2022)

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto, SCV002505670.1

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

Last Updated: Jun 23, 2024

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