NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser) AND Short stature

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 18, 2001
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:: RCV000736190.1

Allele description [Variation Report for NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)]

NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)

Gene:

UBR4:ubiquitin protein ligase E3 component n-recognin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)

HGVS:

NC_000001.11:g.19155051C>T
NG_027669.1:g.60202G>A
NM_020765.3:c.6325G>AMANE SELECT
NP_065816.2:p.Gly2109Ser
NC_000001.10:g.19481545C>T
NM_020765.2:c.6325G>A

Protein change:

G2109S

Links:

dbSNP: rs144709443

NCBI 1000 Genomes Browser:

rs144709443

Molecular consequence:

NM_020765.3:c.6325G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Short stature
Identifiers:: MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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
SCV000864487	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	no assertion criteria provided	Likely pathogenic (Nov 18, 2001)	germline	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000864487

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

no assertion criteria provided

Likely pathogenic
(Nov 18, 2001)

germline

case-control

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	case-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864487.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

#	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: Dec 24, 2023

ClinVar

Relating variation to medicine