NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) AND Acute myeloid leukemia

Clinical significance:Pathogenic (Last evaluated: Jun 9, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009548.4

Allele description [Variation Report for NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)]

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

Gene:
ETV6:ETS variant transcription factor 6 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12p13.2
Genomic location:
Preferred name:
NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)
HGVS:
  • NC_000012.12:g.11890994_11890995insGGG
  • NG_011443.1:g.246141_246142insGGG
  • NM_001987.4:c.1307_1308insGGG
  • NP_001978.1:p.His436delinsGlnGly
  • LRG_609t1:c.1307_1308insGGG
  • LRG_609:g.246141_246142insGGG
  • LRG_609p1:p.His436delinsGlnGly
  • NC_000012.11:g.12043928_12043929insGGG
Links:
OMIM: 600618.0002; dbSNP: rs587776710
NCBI 1000 Genomes Browser:
rs587776710
Molecular consequence:
  • NM_001987.4:c.1307_1308insGGG - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029766OMIMno assertion criteria providedPathogenic
(Jun 9, 2005)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia.

Barjesteh van Waalwijk van Doorn-Khosrovani S, Spensberger D, de Knegt Y, Tang M, Löwenberg B, Delwel R.

Oncogene. 2005 Jun 9;24(25):4129-37.

PubMed [citation]
PMID:
15806161

Details of each submission

From OMIM, SCV000029766.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In leukemic blast cells of a patient with acute myeloid leukemia (601626), Barjesteh van Waalwijk van Doorn-Khosrovani et al. (2005) identified a somatic heterozygous 3-bp insertion (1307insGGG) in the ETV6 gene, resulting in the insertion of a glycine between codons 344 and 345 in the DNA binding domain. The mutant protein was unable to repress transcription and showed dominant-negative effects.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2021

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