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NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)

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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 8, 2020
Accession:
VCV000812735.3
Variation ID:
812735
Description:
single nucleotide variant
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NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)

Allele ID
801169
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.32
Genomic location
17: 47283543 (GRCh38) GRCh38 UCSC
17: 45360909 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000212.3(ITGB3):c.355C>T MANE Select
NC_000017.10:g.45360909C>T
NC_000017.11:g.47283543C>T
... more HGVS
Protein change
R119W
Other names
-
Canonical SPDI
NC_000017.11:47283542:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs781062792
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 reviewed by expert panel Sep 8, 2020 RCV001003532.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ITGB3 No evidence available No evidence available GRCh38
GRCh37
167 241

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 08, 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: SCV001478542.2
Submitted: (Aug 25, 2021)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The NM_000212.3(ITGB3):c.355C>T variant predicts a missense change, Arg119Trp. It is reported at a frequency of 0.0001307 (4/30614 South Asian alleles) in gnomAD v2.1.1 and does … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Glanzmann thrombasthenia 1
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001161858.1
Submitted: (Sep 13, 2019)
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
Whole-genome sequencing of patients with rare diseases in a national health system. Turro E Nature 2020 PMID: 32581362
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/cb5cccf2-e599-48d8-b437-2b65b1a22be8 - - - -

Text-mined citations for rs781062792...

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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