NM_000901.5(NR3C2):c.928_939del (p.Val310_Pro313del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 2, 2023
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:: RCV003442743.1

Allele description [Variation Report for NM_000901.5(NR3C2):c.928_939del (p.Val310_Pro313del)]

NM_000901.5(NR3C2):c.928_939del (p.Val310_Pro313del)

Gene:

NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q31.23

Genomic location:

Preferred name:

NM_000901.5(NR3C2):c.928_939del (p.Val310_Pro313del)

HGVS:

NC_000004.12:g.148435924_148435935del
NG_013350.1:g.11588_11599del
NG_013350.2:g.14575_14586del
NM_000901.5:c.928_939delMANE SELECT
NM_001166104.2:c.928_939del
NM_001354819.1:c.928_939del
NP_000892.2:p.Val310_Pro313del
NP_001159576.1:p.Val310_Pro313del
NP_001341748.1:p.Val310_Pro313del
NC_000004.11:g.149357076_149357087del
NM_000901.4:c.928_939del
NR_148974.2:n.1185_1196del

Molecular consequence:

NM_000901.5:c.928_939del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001166104.2:c.928_939del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354819.1:c.928_939del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_148974.2:n.1185_1196del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004168135	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 2, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004168135

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 2, 2023)

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, SCV004168135.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 4 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Nov 25, 2023

ClinVar

Relating variation to medicine