NM_000475.5(NR0B1):c.580del (p.Ala194fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 3, 2015
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:: RCV000413027.1

Allele description

NM_000475.5(NR0B1):c.580del (p.Ala194fs)

Gene:

NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_000475.5(NR0B1):c.580del (p.Ala194fs)

HGVS:

NC_000023.11:g.30308785del
NG_009814.1:g.5595del
NM_000475.5:c.580delMANE SELECT
NP_000466.2:p.Ala194fs
LRG_858t1:c.580del
LRG_858:g.5595del
LRG_858p1:p.Ala194fs
NC_000023.10:g.30326902del
NM_000475.4:c.580delG

Protein change:

A194fs

Links:

dbSNP: rs1057517778

NCBI 1000 Genomes Browser:

rs1057517778

Molecular consequence:

NM_000475.5:c.580del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490672	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490672

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 3, 2015)

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, SCV000490672.1

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

Description

The c.580delG pathogenic variant in the NR0B1 gene causes a frameshift starting with codon Alanine 194, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 70 of the new reading frame, denoted p.Ala194ArgfsX70. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret c.580delG to be a pathogenic variant.

#	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: Feb 27, 2021

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