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NM_002049.3(GATA1):c.89C>G (p.Ser30Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 2, 2021)
Last evaluated:
Sep 1, 2020
Accession:
VCV000465134.2
Variation ID:
465134
Description:
single nucleotide variant
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NM_002049.3(GATA1):c.89C>G (p.Ser30Ter)

Allele ID
471606
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.23
Genomic location
X: 48791198 (GRCh38) GRCh38 UCSC
X: 48649605 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_559:g.9625C>G
NC_000023.10:g.48649605C>G
NC_000023.11:g.48791198C>G
... more HGVS
Protein change
S30*
Other names
-
Canonical SPDI
NC_000023.11:48791197:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA412866876
dbSNP: rs1557020021
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 16, 2017 RCV000552766.1
Pathogenic 1 criteria provided, single submitter Sep 1, 2020 RCV001293757.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GATA1 No evidence available No evidence available GRCh38
GRCh37
114 282

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 16, 2017)
criteria provided, single submitter
Method: clinical testing
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia
Allele origin: germline
Invitae
Accession: SCV000640017.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change creates a premature translational stop signal at codon 30 (p.Ser30*) of the GATA1 gene. It is expected to result in an absent … (more)
Pathogenic
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
Acute megakaryoblastic leukemia in down syndrome
Allele origin: somatic
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV001480510.1
Submitted: (Feb 02, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1557020021...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021