NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) AND Thrombocytopenia

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 1, 2019
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:: RCV000851592.4

Allele description [Variation Report for NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)]

NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)

Gene:

ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)

Other names:

R995W

HGVS:

NC_000017.11:g.44372408G>A
NG_008331.1:g.22098C>T
NM_000419.5:c.3076C>TMANE SELECT
NP_000410.2:p.Arg1026Trp
LRG_479t1:c.3076C>T
LRG_479:g.22098C>T
NC_000017.10:g.42449776G>A
NM_000419.3:c.3076C>T
NM_000419.4:c.3076C>T
NM_000419.5(ITGA2B):c.3076C>TMANE SELECT
P08514:p.Arg1026Trp

Protein change:

R1026W; ARG995TRP

Links:

UniProtKB: P08514#VAR_069919; OMIM: 607759.0018; dbSNP: rs766503255

NCBI 1000 Genomes Browser:

rs766503255

Molecular consequence:

NM_000419.5:c.3076C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Thrombocytopenia
Identifiers:: MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Potassium Iodide
Potassium Iodide
An inorganic compound that is used as a source of iodine in thyrotoxic crisis and in the preparation of thyrotoxic patients for thyroidectomy. (From Dorland, 27th ed)...<br/>Year introduced: 1965

MeSH
D011193 (1)
MeSH
ART1 [Macaca nemestrina]
ART1 [Macaca nemestrina]
Gene ID:105468685

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000899328	NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 1, 2019)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31064749
SCV001161856	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Pathogenic (Sep 1, 2019)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000899328

NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 1, 2019)

unknown

research

PubMed (2)
[See all records that cite these PMIDs]

SCV001161856

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Pathogenic
(Sep 1, 2019)

unknown

research

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	unknown	yes	1	not provided	not provided	1	not provided	research
European	unknown	yes	2	not provided	not provided	2	not provided	research

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

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, et al.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PubMed [citation]

PMID:: 31064749
PMCID:: PMC6993014

See all PubMed Citations (3)

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899328.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	1	not provided	not provided	research	PubMed (2)
2	European	1	not provided	not provided	research	PubMed (2)

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

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161856.2

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

Description

The clinical significance is unchnaged from the previous submission.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jul 23, 2024

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