NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) AND Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000011173.7

Allele description [Variation Report for NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)]

NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)

Gene:
GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)
Other names:
R216Q
HGVS:
  • NC_000023.11:g.48792371G>A
  • NG_008846.2:g.10798G>A
  • NM_002049.3:c.647G>A
  • NP_002040.1:p.Arg216Gln
  • NP_002040.1:p.Arg216Gln
  • LRG_559t1:c.647G>A
  • LRG_559:g.10798G>A
  • LRG_559p1:p.Arg216Gln
  • NC_000023.10:g.48650778G>A
  • P15976:p.Arg216Gln
Protein change:
ARG216GLN
Links:
UniProtKB: P15976#VAR_033114; OMIM: 305371.0006; dbSNP: rs104894809
NCBI 1000 Genomes Browser:
rs104894809
Molecular consequence:
  • NM_002049.3:c.647G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis (XLTT)
Synonyms:
THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
Identifiers:
MONDO: MONDO:0010745; MedGen: C1839161; OMIM: 314050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031400OMIMno assertion criteria providedPathogenic
(Oct 1, 2007)
germlineliterature only

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

Neufeld, E. J., Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Fleming, M. D. What's in a name? (Letter) Blood 110: 2771-only, 2007.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.

Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH.

Blood. 2002 Sep 15;100(6):2040-5.

PubMed [citation]
PMID:
12200364
PMCID:
PMC2808424

X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.

Thompson AR, Wood WG, Stamatoyannopoulos G.

Blood. 1977 Aug;50(2):303-16.

PubMed [citation]
PMID:
871527
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000031400.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

Yu et al. (2002) identified an arg216-to-gln (R216Q) mutation in the N finger of GATA1 in a family with X-linked thrombocytopenia with beta-thalassemia (XLTT; 314050). The family had previously been reported by Thompson et al. (1977).

Tubman et al. (2007) identified an R216Q substitution in affected members of a family with a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of the so-called 'gray platelet syndrome' (139090). In a letter, Balduini et al. (2007) stated that the family reported by Tubman et al. (2007) had a phenotype consistent with X-linked thrombocytopenia with beta-thalassemia (XLTT) and that the classification as 'X-linked gray platelet syndrome' is a misnomer risking confusion in the literature. They noted that deficiency of platelet alpha-granules can be a feature of XLTT. In response, the original authors (Neufeld et al., 2007) agreed that the disorder in the family may be classified as an example of a unique disorder, i.e., XLTT, but endorsed its classification as 'a unique kind of GPS, inherited in X-linked fashion, with platelets indistinguishable by experts from autosomal GPS (at the light microscope and ultrastructure level).'

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

Last Updated: Sep 12, 2021

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