NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly) AND Bernard-Soulier syndrome, type A2, autosomal dominant

Germline classification:: Pathogenic (1 submission)
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:: RCV002223112.4

Allele description [Variation Report for NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly)]

NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly)

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.58T>G (p.Cys20Gly)

HGVS:

NC_000017.11:g.4932662T>G
NG_008767.2:g.5368T>G
NM_000173.7:c.58T>GMANE SELECT
NP_000164.5:p.Cys20Gly
LRG_480t1:c.58T>G
LRG_480:g.5368T>G
LRG_480p1:p.Cys20Gly
NC_000017.10:g.4835957T>G
NM_000173.6:c.58T>G

Protein change:

C20G

Links:

dbSNP: rs2151107661

NCBI 1000 Genomes Browser:

rs2151107661

Molecular consequence:

NM_000173.7:c.58T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

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PREDICTED: Bison bison bison solute carrier family 35, member D3 (SLC35D3), mRNA
PREDICTED: Bison bison bison solute carrier family 35, member D3 (SLC35D3), mRNA
gi|742141043|ref|XM_010844231.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002500873	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 34355501, 30908598, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002500873

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	5	not provided	not provided	5	yes	clinical testing

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021.

PubMed [citation]

PMID:: 34355501
PMCID:: PMC9291976

Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia.

Leinøe E, Gabrielaite M, Østrup O, Funding E, Greinacher A, Ostrowski SR, Zetterberg E, Rossing M.

Br J Haematol. 2019 Jul;186(2):373-376. doi: 10.1111/bjh.15886. Epub 2019 Mar 25. No abstract available.

PubMed [citation]

PMID:: 30908598

See all PubMed Citations (3)

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002500873.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	yes	clinical testing	PubMed (3)
2	Caucasian	1	not provided	yes	clinical testing	PubMed (3)
3	Caucasian	1	not provided	yes	clinical testing	PubMed (3)
4	Caucasian	1	not provided	yes	clinical testing	PubMed (3)
5	Caucasian	1	not provided	yes	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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