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ARHGAP26, 74-BP INS

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 1, 2000
Accession:
VCV000005054.1
Variation ID:
5054
Description:
insertion
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ARHGAP26, 74-BP INS

Allele ID
20093
Variant type
Insertion
Variant length
-
Cytogenetic location
5q31
Genomic location
-
HGVS
-
Protein change
-
Other names
74-BP INS
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605370.0003
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 1, 2000 RCV000005357.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARHGAP26 - - GRCh38
GRCh37
19 41

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 01, 2000)
no assertion criteria provided
Method: literature only
LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000025535.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q. Borkhardt A Proceedings of the National Academy of Sciences of the United States of America 2000 PMID: 10908648

Record last updated Oct 08, 2021