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

Clinical significance:Pathogenic (Last evaluated: Jan 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001382887.1

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:
Diamond-Blackfan anemia (DBA)
Synonyms:
ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND; Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
Name:
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (GATA1-Related X-Linked Cytopenia)
Identifiers:
MedGen: C1845837

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001581843Invitaecriteria provided, single submitter
Pathogenic
(Jan 8, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation.

White JG, Thomas A.

Platelets. 2009 Feb;20(1):41-9. doi: 10.1080/09537100802406661.

PubMed [citation]
PMID:
19172521

Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.

Balduini CL, Pecci A, Loffredo G, Izzo P, Noris P, Grosso M, Bergamaschi G, Rosti V, Magrini U, Ceresa IF, Conti V, Poggi V, Savoia A.

Thromb Haemost. 2004 Jan;91(1):129-40.

PubMed [citation]
PMID:
14691578
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001581843.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change replaces arginine with glutamine at codon 216 of the GATA1 protein (p.Arg216Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with thrombocytopenia (PMID: 12200364, 19172521, 14691578, 12200364, 17209061). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 10428). This variant has been reported to affect GATA1 protein function (PMID: 23704091, 12200364). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 16, 2021

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