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NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000149803.9

Allele description [Variation Report for NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)]

NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)

Genes:
LOC126861452:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 [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.1106G>A (p.Arg369Gln)
Other names:
R369Q
HGVS:
  • NC_000012.12:g.11884541G>A
  • NG_011443.1:g.239688G>A
  • NM_001987.5:c.1106G>AMANE SELECT
  • NP_001978.1:p.Arg369Gln
  • NP_001978.1:p.Arg369Gln
  • LRG_609t1:c.1106G>A
  • LRG_609:g.239688G>A
  • LRG_609p1:p.Arg369Gln
  • NC_000012.11:g.12037475G>A
  • NM_001987.4:c.1106G>A
  • P41212:p.Arg369Gln
Protein change:
ARG369GLN
Links:
UniProtKB: P41212#VAR_073323; OMIM: 600618.0004; dbSNP: rs724159946
NCBI 1000 Genomes Browser:
rs724159946
Molecular consequence:
  • NM_001987.5:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hematologic neoplasm
Synonyms:
Hematologic cancer; Hematological neoplasm; Hematological malignancies
Identifiers:
MeSH: D019337; MedGen: C0376545; Human Phenotype Ontology: HP:0004377
Name:
Thrombocytopenia
Identifiers:
MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000195554Akiko Shimamura Lab, Fred Hutchinson Cancer Research Center
no assertion criteria provided
Pathogenic
(Nov 30, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Scottishgermlineyes6not 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, SCV000195554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Scottish6not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

Last Updated: Jun 9, 2024