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NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 25, 2020)
Last evaluated:
May 21, 2020
Accession:
VCV000975812.1
Variation ID:
975812
Description:
deletion
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NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del

Allele ID
964095
Variant type
Deletion
Variant length
-
Cytogenetic location
-
Genomic location
-
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 21, 2020 RCV001252666.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GATA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
813 839

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 21, 2020)
criteria provided, single submitter
Method: clinical testing
Myelodysplastic syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Godley laboratory, The University of Chicago
Accession: SCV001252686.1
Submitted: (Jun 25, 2020)
Evidence details
Comment:
This heterozygous deletion of exon 4 of GATA2 was identified in germline in a 22-year old female with MDS-U and leukocytoclastic vasculitis. The exact breakpoints … (more)

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