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NM_000419.3(ITGA2B):c.1787T>C

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Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
2 (Most recent: Aug 25, 2021)
Last evaluated:
Sep 6, 2020
Accession:
VCV000002900.5
Variation ID:
2900
Description:
single nucleotide variant
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NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)

Allele ID
17939
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 44379780 (GRCh38) GRCh38 UCSC
17: 42457148 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P08514:p.Ile596Thr
LRG_479t1:c.1787T>C LRG_479p1:p.Ile596Thr
LRG_479:g.14726T>C
... more HGVS
Protein change
I596T
Other names
I565T
Canonical SPDI
NC_000017.11:44379779:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00006
Links
ClinGen: CA115846
UniProtKB: P08514#VAR_030460
OMIM: 607759.0013
dbSNP: rs76811038
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 reviewed by expert panel Sep 6, 2020 RCV000003034.7
Pathogenic 1 no assertion criteria provided Sep 1, 1998 RCV001580160.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ITGA2B - - GRCh38
GRCh37
267 277

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 06, 2020)
reviewed by expert panel
Method: curation
Glanzmann thrombasthenia
(Autosomal recessive inheritance)
Allele origin: germline
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen
FDA Recognized Database
Accession: SCV001397508.3
Submitted: (Aug 25, 2021)
Evidence details
Publications
PubMed (4)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The NM_000419.3:c.1787T>C that results in the Ile596Thr missense change is reported in at least 2 homozygous individuals with Glanzmann Thrombasthenia (PMIDs: 9734640, 22513797). It was … (more)
Pathogenic
(Sep 01, 1998)
no assertion criteria provided
Method: literature only
GLANZMANN THROMBASTHENIA 1
Allele origin: germline
OMIM
Accession: SCV000023192.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families. Sandrock K Klinische Padiatrie 2012 PMID: 22513797
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. Jallu V Human mutation 2010 PMID: 20020534
Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. Ruan J British journal of haematology 1998 PMID: 9734640
Hematologically important mutations: Glanzmann thrombasthenia. French DL Blood cells, molecules & diseases 1997 PMID: 9215749
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/c6b42f33-92f7-4a71-822b-932469bd66ae - - - -

Text-mined citations for rs76811038...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 06, 2021