NM_000419.3(ITGA2B):c.1787T>C AND Glanzmann thrombasthenia

Clinical significance:Uncertain significance (Last evaluated: Sep 6, 2020)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003034.7

Allele description [Variation Report for NM_000419.3(ITGA2B):c.1787T>C]

NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)

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.1787T>C (p.Ile596Thr)
Other names:
I565T
HGVS:
  • NC_000017.11:g.44379780A>G
  • NG_008331.1:g.14726T>C
  • NM_000419.3(ITGA2B):c.1787T>C
  • NM_000419.5:c.1787T>CMANE SELECT
  • NP_000410.2:p.Ile596Thr
  • LRG_479t1:c.1787T>C
  • LRG_479:g.14726T>C
  • LRG_479p1:p.Ile596Thr
  • NC_000017.10:g.42457148A>G
  • NM_000419.3(ITGA2B):c.1787T>C
  • NM_000419.3:c.1787T>C
  • P08514:p.Ile596Thr
Protein change:
I596T; ILE565THR
Links:
UniProtKB: P08514#VAR_030460; OMIM: 607759.0013; dbSNP: rs76811038
NCBI 1000 Genomes Browser:
rs76811038
Molecular consequence:
  • NM_000419.5:c.1787T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001397508ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGenreviewed by expert panel
Uncertain significance
(Sep 6, 2020)
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Hematologically important mutations: Glanzmann thrombasthenia.

French DL, Coller BS.

Blood Cells Mol Dis. 1997;23(1):39-51. No abstract available.

PubMed [citation]
PMID:
9215749

Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.

Ruan J, Peyruchaud O, Alberio L, Valles G, Clemetson K, Bourre F, Nurden AT.

Br J Haematol. 1998 Sep;102(4):918-25.

PubMed [citation]
PMID:
9734640
See all PubMed Citations (4)

Details of each submission

From ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen, SCV001397508.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

The NM_000419.3:c.1787T>C that results in the Ile596Thr missense change is reported in at least 2 homozygous individuals with Glanzmann Thrombasthenia (PMIDs: 9734640, 22513797). It was found to co-segregate with disease in 1 additional family member. It is reported in gonmAD (v3 and v2.1.1 combined) at a frequency >0.0001. In summary, there is insufficient evidence at this time to classify the Ile596Thr variant. GT-specific codes applied: PP4_Strong, PP1.

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

Last Updated: Sep 7, 2021

Support Center