NM_000442.5(PECAM1):c.373G>C (p.Val125Leu) AND Three Vessel Coronary Disease

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

Germline classification:: 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:: RCV001003440.1

Allele description

NM_000442.5(PECAM1):c.373G>C (p.Val125Leu)

Gene:

PECAM1:platelet and endothelial cell adhesion molecule 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.3

Genomic location:

Preferred name:

NM_000442.5(PECAM1):c.373G>C (p.Val125Leu)

Other names:

L125V

HGVS:

NC_000017.11:g.64377836C>G
NG_047009.1:g.40966G>C
NM_000442.5:c.373G>CMANE SELECT
NP_000433.4:p.Val125Leu
NM_000442.4:c.373G>C
NP_000433.4:p.LEU125VAL

Protein change:

V125L; LEU125VAL

Links:

OMIM: 173445.0001; dbSNP: rs281865545

NCBI 1000 Genomes Browser:

rs281865545

Molecular consequence:

NM_000442.5:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Three Vessel Coronary Disease
Identifiers:: MedGen: C3272265

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
SCV001161735	Department of Cardiology, Chinese Academy of Medical Sciences,Fuwai Hospital	no assertion criteria provided	Benign	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001161735

Department of Cardiology, Chinese Academy of Medical Sciences,Fuwai Hospital

no assertion criteria provided

Benign

somatic

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Cardiology, Chinese Academy of Medical Sciences,Fuwai Hospital, SCV001161735.1

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

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine