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NM_001426.4(EN1):c.317dup (p.Ile107fs) AND EN1 syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2020
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:
RCV001270919.1

Allele description [Variation Report for NM_001426.4(EN1):c.317dup (p.Ile107fs)]

NM_001426.4(EN1):c.317dup (p.Ile107fs)

Gene:
EN1:engrailed homeobox 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q14.2
Genomic location:
Preferred name:
NM_001426.4(EN1):c.317dup (p.Ile107fs)
HGVS:
  • NC_000002.12:g.118846855dup
  • NG_007123.1:g.6333dup
  • NM_001426.4:c.317dupMANE SELECT
  • NP_001417.3:p.Ile107fs
  • NC_000002.11:g.119604431dup
  • NM_001426.3:c.317dupT
Protein change:
I107fs
Links:
OMIM: 131290.0001; dbSNP: rs1678284190
NCBI 1000 Genomes Browser:
rs1678284190
Molecular consequence:
  • NM_001426.4:c.317dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]
Observations:
1

Condition(s)

Name:
EN1 syndrome
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450639Division of Genetic Medicine, Lausanne University Hospital
no assertion criteria provided
Pathogenic
(Dec 15, 2020) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Division of Genetic Medicine, Lausanne University Hospital, SCV001450639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022