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NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 20, 2023
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:
RCV003372620.2

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:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004087410Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Dec 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004087410.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R369Q variant (also known as c.1106G>A), located in coding exon 6 of the ETV6 gene, results from a G to A substitution at nucleotide position 1106. The arginine at codon 369 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. This alteration has been reported in multiple individuals with a personal and/or family history that is consistent with ETV6-related disease (Drazer MW et al. Blood Adv 2022 Aug;6(15):4357-4359; Moriyama T et al. Lancet Oncol 2015 Dec;16(16):1659-66; Leinøe E et al. Br J Haematol 2019 Jul;186(2):373-376). Multiple functional studies have demonstrated that this alteration impacts the ability of ETV6 to bind DNA and repress target gene function (Fisher MH et al. JCI Insight 2020 Sep;5(18); Topka S et al. PLoS Genet 2015 Jun;11(6):e1005262; Nishii R et al. Blood 2021 Jan;137(3):364-373). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Jun 9, 2024