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NM_014209.4(ETV2):c.350del (p.Gly117fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001507333.2

Allele description [Variation Report for NM_014209.4(ETV2):c.350del (p.Gly117fs)]

NM_014209.4(ETV2):c.350del (p.Gly117fs)

Genes:
LOC130064247:ATAC-STARR-seq lymphoblastoid silent region 10530 [Gene]
ETV2:ETS variant transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_014209.4(ETV2):c.350del (p.Gly117fs)
HGVS:
  • NC_000019.10:g.35643388del
  • NG_012193.1:g.136del
  • NM_001300974.2:c.71del
  • NM_001304549.2:c.154+690del
  • NM_014209.4:c.350delMANE SELECT
  • NP_001287903.1:p.Gly24fs
  • NP_055024.2:p.Gly117fs
  • LRG_1246:g.136del
  • NC_000019.9:g.36134290del
  • NM_014209.2:c.350del
Protein change:
G117fs
Links:
dbSNP: rs755996862
NCBI 1000 Genomes Browser:
rs755996862
Molecular consequence:
  • NM_001300974.2:c.71del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014209.4:c.350del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304549.2:c.154+690del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Polydactyly
Synonyms:
Extra digits; Supernumerary digits; Polydactylia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021003; MedGen: C0152427; OMIM: 603596; Human Phenotype Ontology: HP:0010442
Name:
Heart, malformation of
Identifiers:
MONDO: MONDO:0009327; MeSH: D006330; MedGen: CN130023; OMIM: 140500; OMIM: 234750
Name:
Abnormal vertebral morphology
Synonyms:
vertebral anomalies
Identifiers:
MedGen: C1834129; Human Phenotype Ontology: HP:0003468
Name:
Hypoplastic left heart syndrome
Synonyms:
Hypoplastic left heart
Identifiers:
MONDO: MONDO:0004933; MedGen: C0152101; Orphanet: 2248; OMIM: PS241550; Human Phenotype Ontology: HP:0004383

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001712079The Raphael Recanati Genetics Institute, Rabin Medical Center
no assertion criteria provided
Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
mixed origingermlineyes41not providednot providednot providedclinical testing

Citations

PubMed

Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.

Basel-Salmon L, Ruhrman-Shahar N, Barel O, Hagari O, Marek-Yagel D, Azulai N, Bazak L, Svirsky R, Reznik-Wolf H, Lidzbarsky GA, Shohat M.

Eur J Med Genet. 2021 Feb;64(2):104124. doi: 10.1016/j.ejmg.2020.104124. Epub 2021 Jan 8.

PubMed [citation]
PMID:
33359164

Details of each submission

From The Raphael Recanati Genetics Institute, Rabin Medical Center, SCV001712079.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1mixed origin4not providednot providedclinical testing PubMed (1)

Description

4 fetuses with cardiac and vertebral malformations

Description

This variant, NM_014209.2:c.350del, was observed in compound heterozygosity with NM_014209.2:c.757G>T

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not provided1not provided

Last Updated: Sep 16, 2024