NM_173569.4(UBN2):c.2530C>T (p.Pro844Ser) AND EBV-positive nodal T- and NK-cell lymphoma

Germline classification:: Likely benign (1 submission)
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:: RCV004558034.1

Allele description [Variation Report for NM_173569.4(UBN2):c.2530C>T (p.Pro844Ser)]

NM_173569.4(UBN2):c.2530C>T (p.Pro844Ser)

Gene:

UBN2:ubinuclein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_173569.4(UBN2):c.2530C>T (p.Pro844Ser)

HGVS:

NC_000007.14:g.139283435C>T
NM_173569.4:c.2530C>TMANE SELECT
NP_775840.3:p.Pro844Ser
NC_000007.13:g.138968181C>T

Protein change:

P844S

Molecular consequence:

NM_173569.4:c.2530C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: EBV-positive nodal T- and NK-cell lymphoma
Identifiers:

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
SCV004218318	Department of Clinical Pathology, School of Medicine, Fujita Health University	no assertion criteria provided	Likely benign	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004218318

Department of Clinical Pathology, School of Medicine, Fujita Health University

no assertion criteria provided

Likely benign

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Clinical Pathology, School of Medicine, Fujita Health University, SCV004218318.1

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

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

Last Updated: Jun 9, 2024

ClinVar

Relating variation to medicine