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

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Jan 13, 2021)
Last evaluated:
Nov 12, 2020
Accession:
VCV000162222.2
Variation ID:
162222
Description:
single nucleotide variant
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NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)

Allele ID
171928
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.2
Genomic location
12: 11869601 (GRCh38) GRCh38 UCSC
12: 12022535 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P41212:p.Pro214Leu
NM_001987.4:c.641C>T NP_001978.1:p.Pro214Leu missense
NC_000012.11:g.12022535C>T
... more HGVS
Protein change
-
Other names
P214L
Canonical SPDI
NC_000012.12:11869600:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA175031
UniProtKB: P41212#VAR_073322
OMIM: 600618.0005
dbSNP: rs724159947
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 30, 2014 RCV000149804.1
Pathogenic 1 no assertion criteria provided May 1, 2015 RCV000157611.6
Pathogenic 1 no assertion criteria provided Nov 12, 2020 RCV001281572.1
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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
Likely pathogenic
(Nov 30, 2014)
no assertion criteria provided
Method: research
thrombocytopenia
hematologic malignancy
Allele origin: germline
Akiko Shimamura Lab,Fred Hutchinson Cancer Research Center
Accession: SCV000195555.1
Submitted: (Jan 08, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 01, 2015)
no assertion criteria provided
Method: literature only
THROMBOCYTOPENIA 5
Allele origin: germline
OMIM
Accession: SCV000207420.3
Submitted: (May 13, 2015)
Evidence details
Publications
PubMed (2)
Pathogenic
(Nov 12, 2020)
no assertion criteria provided
Method: literature only
Acute myeloid leukemia
Allele origin: germline
GeneReviews
Accession: SCV001468882.1
Submitted: (Jan 13, 2021)
Evidence details
Publications
PubMed (2)
BookShelf: NBK564234

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
<i>ETV6</i> Thrombocytopenia and Predisposition to Leukemia Porter CC - 2020 PMID: 33226740
ETV6-related thrombocytopenia and leukemia predisposition. Di Paola J Blood 2019 PMID: 31248877
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Noetzli L Nature genetics 2015 PMID: 25807284
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Zhang MY Nature genetics 2015 PMID: 25581430

Text-mined citations for rs724159947...

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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 Oct 09, 2021