NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) AND Acute myeloid leukemia

Clinical significance:Pathogenic (Last evaluated: Nov 12, 2020)

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:
RCV001281572.1

Allele description [Variation Report for NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)]

NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)

Gene:
ETV6:ETS variant transcription factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.2
Genomic location:
Preferred name:
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
Other names:
P214L
HGVS:
  • NC_000012.12:g.11869601C>T
  • NG_011443.1:g.224748C>T
  • NM_001987.4:c.641C>T
  • NM_001987.5:c.641C>TMANE SELECT
  • NP_001978.1:p.Pro214Leu
  • NP_001978.1:p.Pro214Leu
  • LRG_609t1:c.641C>T
  • LRG_609:g.224748C>T
  • LRG_609p1:p.Pro214Leu
  • NC_000012.11:g.12022535C>T
  • P41212:p.Pro214Leu
Protein change:
PRO214LEU
Links:
UniProtKB: P41212#VAR_073322; OMIM: 600618.0005; dbSNP: rs724159947
NCBI 1000 Genomes Browser:
rs724159947
Molecular consequence:
  • NM_001987.4:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001987.5:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001468882GeneReviewsno assertion criteria providedPathogenic
(Nov 12, 2020)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

ETV6-related thrombocytopenia and leukemia predisposition.

Di Paola J, Porter CC.

Blood. 2019 Aug 22;134(8):663-667. doi: 10.1182/blood.2019852418. Epub 2019 Jun 27.

PubMed [citation]
PMID:
31248877
PMCID:
PMC6706811

ETV6 Thrombocytopenia and Predisposition to Leukemia.

Porter CC, Di Paola J, Pencheva B.

2020 Nov 19. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

PubMed [citation]
PMID:
33226740

Details of each submission

From GeneReviews, SCV001468882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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