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NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 2, 2021)
Last evaluated:
Sep 1, 2020
Accession:
VCV000998072.1
Variation ID:
998072
Description:
8bp duplication
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NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)

Allele ID
985799
Variant type
Duplication
Variant length
8 bp
Cytogenetic location
Xp11.23
Genomic location
X: 48791248-48791249 (GRCh38) GRCh38 UCSC
X: 48649655-48649656 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.48649658_48649665dup
NC_000023.11:g.48791251_48791258dup
NG_008846.2:g.9678_9685dup
... more HGVS
Protein change
S51fs
Other names
-
Canonical SPDI
NC_000023.11:48791248:CCACTGCCCC:CCACTGCCCCACTGCCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Sep 1, 2020 RCV001293762.1
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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
(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: SCV001480515.1
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.

Record last updated Oct 08, 2021