U.S. flag

An official website of the United States government

NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala) AND Glanzmann thrombasthenia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 2023
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:
RCV001290454.2

Allele description [Variation Report for NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala)]

NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala)

Gene:
ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala)
HGVS:
  • NC_000017.11:g.44372407_44372408delinsGC
  • NG_008331.1:g.22098_22099delinsGC
  • NM_000419.5:c.3076_3077delinsGCMANE SELECT
  • NP_000410.2:p.Arg1026Ala
  • LRG_479:g.22098_22099delinsGC
  • NC_000017.10:g.42449775_42449776delinsGC
Protein change:
R1026A
Links:
dbSNP: rs2048505090
NCBI 1000 Genomes Browser:
rs2048505090
Molecular consequence:
  • NM_000419.5:c.3076_3077delinsGC - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478488ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2-1)		Uncertain significance
(Nov 2, 2023) 		germlinecuration

Citation Link

Help

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, SCV001478488.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The NM_000419.5:c.3076_3077delinsGC results in a missense change, Arg1026Ala. The variant is absent gnomAD v2.1.1 and v3. PMID: 12575292 reports on the variant, but the evidence does not meet GT criteria for phenotype or functional studies. In summary, there is insufficient evidence at this time to classify this variant. GT-specific criteria met: PM2_Supporting.

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

Last Updated: Dec 30, 2023