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NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) AND ETV6-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 5, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003415987.4

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:
ETV6-related disorder
Synonyms:
ETV6-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004115726PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 5, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115726.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The ETV6 c.1106G>A variant is predicted to result in the amino acid substitution p.Arg369Gln. This variant has been reported in individuals with Thrombocytopenia and/or hematologic malignancy (Zhang et al. 2015. PubMed ID: 25581430; Moriyama et al. 2015. PubMed ID: 26522332; Drazer et al. 2022. PubMed ID: 35537115). Functional study showed this variant abrogated DNA binding, alter subcellular localization, decrease transcriptional repression in a dominant-negative fashion and impair hematopoiesis (Zhang et al. 2015. PubMed ID: 25581430). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted likely pathogenic.

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

Last Updated: Jun 9, 2024