NM_006186.4(NR4A2):c.326dup (p.Ser110fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 26, 2019
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:: RCV001768603.2

Allele description [Variation Report for NM_006186.4(NR4A2):c.326dup (p.Ser110fs)]

NM_006186.4(NR4A2):c.326dup (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.326dup (p.Ser110fs)

HGVS:

NC_000002.12:g.156329861dup
NG_011821.1:g.7915dup
NM_006186.4:c.326dupMANE SELECT
NM_173173.3:c.137dup
NP_006177.1:p.Ser110fs
NP_775265.1:p.Ser47fs
NC_000002.11:g.157186373dup
NM_006186.3:c.326dup
NM_006186.3:c.326dupA

Protein change:

S110fs

Links:

OMIM: 601828.0003; dbSNP: rs2105613409

NCBI 1000 Genomes Browser:

rs2105613409

Molecular consequence:

NM_006186.4:c.326dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173173.3:c.137dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Ca(2+) transporter Rsn1 [Schizosaccharomyces pombe]
Ca(2+) transporter Rsn1 [Schizosaccharomyces pombe]
gi|19112024|ref|NP_595232.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001992396	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 26, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001992396

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 26, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001992396.2

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

Description

Frameshift variant predicted to result in nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 31428396, 31922365)

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

Last Updated: Sep 16, 2024

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