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NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
2 (Most recent: Aug 25, 2021)
Last evaluated:
Sep 6, 2020
Accession:
VCV000691627.5
Variation ID:
691627
Description:
single nucleotide variant
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NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)

Allele ID
679346
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 44380926 (GRCh38) GRCh38 UCSC
17: 42458294 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_479:g.13580G>A
NM_000419.5(ITGA2B):c.1346G>A MANE Select
NC_000017.10:g.42458294C>T
... more HGVS
Protein change
G449D
Other names
G418D
Canonical SPDI
NC_000017.11:44380925:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 607759.0010
dbSNP: rs1598380253
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 reviewed by expert panel Sep 6, 2020 RCV000003031.6
Pathogenic 1 no assertion criteria provided Apr 13, 2021 RCV001580161.1
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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
Likely pathogenic
(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: SCV001397477.3
Submitted: (Aug 25, 2021)
Evidence details
Publications
PubMed (1)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The NM_000419.5:c.1346G>A variant that results in the Gly449Asp amino acid change is reported in one homozygous individual in the literature (PMID: 7508443). It is absent … (more)
Pathogenic
(Apr 13, 2021)
no assertion criteria provided
Method: literature only
GLANZMANN THROMBASTHENIA 1
Allele origin: germline
OMIM
Accession: SCV000023189.2
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
A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex. Wilcox DA The Journal of biological chemistry 1994 PMID: 7508443
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/1d8ef499-3ee3-4757-97d7-620a09c5b1c4 - - - -

Text-mined citations for rs1598380253...

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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