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NM_000419.5(ITGA2B):c.409-24C>T AND Glanzmann thrombasthenia

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 19, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001225238.1

Allele description [Variation Report for NM_000419.5(ITGA2B):c.409-24C>T]

NM_000419.5(ITGA2B):c.409-24C>T

Genes:
LOC130060983:ATAC-STARR-seq lymphoblastoid active region 12261 [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.409-24C>T
HGVS:
  • NC_000017.11:g.44385740G>A
  • NG_008331.1:g.8766C>T
  • NM_000419.5:c.409-24C>TMANE SELECT
  • LRG_479:g.8766C>T
  • NC_000017.10:g.42463108G>A
  • NM_000419.4:c.409-24C>T
Links:
dbSNP: rs199738595
NCBI 1000 Genomes Browser:
rs199738595
Molecular consequence:
  • NM_000419.5:c.409-24C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Glanzmann thrombasthenia
Synonyms:
PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY; Thrombasthenia of Glanzmann and Naegeli; Glanzmann thrombasthenia type A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100326; MedGen: C0040015; Orphanet: 849; OMIM: PS273800

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001397490ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2)		Benign
(Jul 19, 2019) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen, SCV001397490.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.409-24C>T intronic variant has not been reported in the literature, to our knowledge. It is present in an African control population at an allele frequency of 0.008379 and no splice impact is predicted. In summary, this variant meets criteria to be classified as benign for GT. GT-specific criteria applied: BA1, BP7.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023