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NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 8, 2018)
Last evaluated:
Sep 16, 2018
Accession:
VCV000591407.1
Variation ID:
591407
Description:
3bp indel
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NM_024426.6(WT1):c.609_611delinsTGA (p.Ala204Glu)

Allele ID
582398
Variant type
Indel
Variant length
3 bp
Cytogenetic location
11p13
Genomic location
11: 32434750-32434752 (GRCh38) GRCh38 UCSC
11: 32456296-32456298 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.32434750_32434752delinsTCA
NC_000011.9:g.32456296_32456298delinsTCA
NM_024426.6:c.609_611delinsTGA MANE Select NP_077744.4:p.Ala204Glu missense
... more HGVS
Protein change
A204E
Other names
-
Canonical SPDI
NC_000011.10:32434749:GCG:TCA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1565001078
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Sep 16, 2018 RCV000722586.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WT1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
474 869
LOC107982234 - - - GRCh38 - 368

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 16, 2018)
no assertion criteria provided
Method: research
not provided
Allele origin: germline
Gharavi Laboratory,Columbia University
Accession: SCV000853717.1
Submitted: (Oct 08, 2018)
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 rs1565001078...

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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 Mar 12, 2021