NM_006186.4(NR4A2):c.327dup (p.Ser110fs) AND Epilepsy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 19, 2018
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:: RCV000656523.1

Allele description [Variation Report for NM_006186.4(NR4A2):c.327dup (p.Ser110fs)]

NM_006186.4(NR4A2):c.327dup (p.Ser110fs)

Gene:

NR4A2:nuclear receptor subfamily 4 group A member 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q24.1

Genomic location:

Preferred name:

NM_006186.4(NR4A2):c.327dup (p.Ser110fs)

HGVS:

NC_000002.12:g.156329860dup
NG_011821.1:g.7916dup
NM_006186.4:c.327dupMANE SELECT
NM_173173.3:c.138dup
NP_006177.1:p.Ser110fs
NP_775265.1:p.Ser47fs
NC_000002.11:g.157186372dup
NC_000002.11:g.157186372dupC

Protein change:

S110fs

Links:

dbSNP: rs1553456695

NCBI 1000 Genomes Browser:

rs1553456695

Molecular consequence:

NM_006186.4:c.327dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173173.3:c.138dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Epilepsy
Synonyms:: Seizure Disorders; Seizure disorder
Identifiers:: MONDO: MONDO:0005027; MeSH: D004827; MedGen: C0014544

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000778517	Mendelics	no assertion criteria provided	Likely pathogenic (Jan 19, 2018)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000778517

Mendelics

no assertion criteria provided

Likely pathogenic
(Jan 19, 2018)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV000778517.1

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

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine