NM_173569.4(UBN2):c.1511G>C (p.Gly504Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2024
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:: RCV004677848.1

Allele description [Variation Report for NM_173569.4(UBN2):c.1511G>C (p.Gly504Ala)]

NM_173569.4(UBN2):c.1511G>C (p.Gly504Ala)

Gene:

UBN2:ubinuclein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_173569.4(UBN2):c.1511G>C (p.Gly504Ala)

HGVS:

NC_000007.14:g.139269438G>C
NM_173569.4:c.1511G>CMANE SELECT
NP_775840.3:p.Gly504Ala
NC_000007.13:g.138954184G>C
NM_173569.3:c.1511G>C

Protein change:

G504A

Molecular consequence:

NM_173569.4:c.1511G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

PREDICTED: Hippoglossus stenolepis myocyte enhancer factor 2cb (mef2cb), transcr...
PREDICTED: Hippoglossus stenolepis myocyte enhancer factor 2cb (mef2cb), transcript variant X10, mRNA
gi|2216716084|ref|XM_035166897.2|

Nucleotide
PREDICTED: Homo sapiens glucuronidase beta (GUSB), transcript variant X1, mRNA
PREDICTED: Homo sapiens glucuronidase beta (GUSB), transcript variant X1, mRNA
gi|2217366805|ref|XM_005250297.5|

Nucleotide
Macrophages
Macrophages
The relatively long-lived phagocytic cell of mammalian tissues that are derived from blood MONOCYTES. Main types are PERITONEAL MACROPHAGES; ALVEOLAR MACROPHAGES; HISTIOCYTES;...<br/>

MeSH

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
SCV005177087	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 18, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005177087

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 18, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005177087.1

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

Description

The c.1511G>C (p.G504A) alteration is located in exon 8 (coding exon 8) of the UBN2 gene. This alteration results from a G to C substitution at nucleotide position 1511, causing the glycine (G) at amino acid position 504 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024

ClinVar

Relating variation to medicine