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

Clinical significance:Likely pathogenic (Last evaluated: Nov 30, 2014)

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:
RCV000149804.1

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:
Hematologic neoplasm
Synonyms:
Hematologic cancer; Hematological neoplasm; Blood tumor; See all synonyms [MedGen]
Identifiers:
MeSH: D019337; MedGen: C0376545; Human Phenotype Ontology: HP:0004377
Name:
Thrombocytopenia
Synonyms:
Low platelet count
Identifiers:
MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000195555Akiko Shimamura Lab,Fred Hutchinson Cancer Research Centerno assertion criteria providedLikely pathogenic
(Nov 30, 2014)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African-Americangermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, et al.

Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12.

PubMed [citation]
PMID:
25581430
PMCID:
PMC4540357

Details of each submission

From Akiko Shimamura Lab,Fred Hutchinson Cancer Research Center, SCV000195555.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African-American1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 16, 2021

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