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NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jun 9, 2005
Accession:
VCV000008985.1
Variation ID:
8985
Description:
3bp insertion
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NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)

Allele ID
24024
Variant type
Insertion
Variant length
3 bp
Cytogenetic location
12p13.2
Genomic location
12: 11890994-11890995 (GRCh38) GRCh38 UCSC
12: 12043928-12043929 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.12043928_12043929insGGG
NC_000012.12:g.11890994_11890995insGGG
NM_001987.4:c.1307_1308insGGG NP_001978.1:p.His436delinsGlnGly
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:11890994::GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA280130
OMIM: 600618.0002
dbSNP: rs587776710
Varsome
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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 Jun 9, 2005 RCV000009548.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ETV6 - - GRCh38
GRCh37
82 122

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 09, 2005)
no assertion criteria provided
Method: literature only
LEUKEMIA, ACUTE MYELOID, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000029766.1
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
Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. Barjesteh van Waalwijk van Doorn-Khosrovani S Oncogene 2005 PMID: 15806161

Text-mined citations for rs587776710...

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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 Jul 24, 2021