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NM_000212.3(ITGB3):c.777+1G>A AND Glanzmann thrombasthenia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 5, 2021
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:
RCV001580245.2

Allele description [Variation Report for NM_000212.3(ITGB3):c.777+1G>A]

NM_000212.3(ITGB3):c.777+1G>A

Genes:
LOC130061044:ATAC-STARR-seq lymphoblastoid active region 12308 [Gene]
ITGB3:integrin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_000212.3(ITGB3):c.777+1G>A
Other names:
NM_000212.3:c.777+1G>A
HGVS:
  • NC_000017.11:g.47286423G>A
  • NG_008332.2:g.37582G>A
  • NM_000212.3:c.777+1G>AMANE SELECT
  • LRG_481t1:c.777+1G>A
  • LRG_481:g.37582G>A
  • NC_000017.10:g.45363789G>A
  • NC_000017.10:g.45363789G>A
  • NM_000212.2:c.777+1G>A
Links:
dbSNP: rs745766760
NCBI 1000 Genomes Browser:
rs745766760
Molecular consequence:
  • NM_000212.3:c.777+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001809884ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen Platelet ACMG Specifications v2)		Pathogenic
(Mar 5, 2021) 		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, SCV001809884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

NM_000212.3(ITGB3):c.777+1G>A is a canonical splice donor variant which is predicted to cause skipping of exon 5, with a frameshift resulting in NMD. It has been reported to occur in one homozygous and one compound heterozygous proband, and at least one of those individuals satisfies clinical and laboratory criteria for GT phenotype (PMID: 25728920). This variant was reported to co-segregate in at least two affected members of a family (PMID: 25728970). This variant meets GT specific criteria for PVS1, PP4_strong, and PP1 and is therefore classified as Pathogenic.

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

Last Updated: Sep 29, 2024