NM_001426.4(EN1):c.166C>G (p.Pro56Ala) AND EN1-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 19, 2022
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:: RCV003911464.2

Allele description [Variation Report for NM_001426.4(EN1):c.166C>G (p.Pro56Ala)]

NM_001426.4(EN1):c.166C>G (p.Pro56Ala)

Gene:

EN1:engrailed homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.2

Genomic location:

Preferred name:

NM_001426.4(EN1):c.166C>G (p.Pro56Ala)

HGVS:

NC_000002.12:g.118847002G>C
NG_007123.1:g.6182C>G
NM_001426.4:c.166C>GMANE SELECT
NP_001417.3:p.Pro56Ala
NC_000002.11:g.119604578G>C
NM_001426.3:c.166C>G

Protein change:

P56A

Molecular consequence:

NM_001426.4:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: EN1-related disorder
Synonyms:: EN1-related condition
Identifiers:

Recent activity

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pyridoxal phosphate synthase subunit YaaD [Thermosphaera aggregans DSM 11486]
pyridoxal phosphate synthase subunit YaaD [Thermosphaera aggregans DSM 11486]
gi|296241763|gnl|REF_jgi|Tagg_0016| P_003649250.1|

Protein
Mus musculus 10 days neonate skin cDNA, RIKEN full-length enriched library, clon...
Mus musculus 10 days neonate skin cDNA, RIKEN full-length enriched library, clone:4732467F02 product:RIKEN cDNA 2410003C20 gene (Hypothetical zinc finger), full insert sequence
gi|74208907|dbj|AK132497.1|

Nucleotide
Rhizobium rhizogenes strain CM80/95 CM80_95_2, whole genome shotgun sequence
Rhizobium rhizogenes strain CM80/95 CM80_95_2, whole genome shotgun sequence
gi|1852547381|ref|NZ_JAAMEE01000002 gnl|WGS:NZ_JAAMEE01|CM80_95_2

Nucleotide
ZK938.12 Uncharacterized protein [Caenorhabditis elegans]
ZK938.12 Uncharacterized protein [Caenorhabditis elegans]
Gene ID:54162624

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004720400	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Jul 19, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004720400

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Jul 19, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004720400.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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