NM_000442.5(PECAM1):c.373G>C (p.Val125Leu) AND PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM

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

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 1, 1996
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:: RCV000014538.2

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:: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034789	OMIM	no assertion criteria provided	Benign (Feb 1, 1996)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034789

OMIM

no assertion criteria provided

Benign
(Feb 1, 1996)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Polymorphism of adhesion molecule CD31 and its role in acute graft-versus-host disease.

Behar E, Chao NJ, Hiraki DD, Krishnaswamy S, Brown BW, Zehnder JL, Grumet FC.

N Engl J Med. 1996 Feb 1;334(5):286-91.

PubMed [citation]

PMID:: 8532023

Details of each submission

From OMIM, SCV000034789.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

By direct sequencing of cDNA for CD31 from 21 normal subjects, Behar et al. (1996) identified a single polymorphism, CTG-to-GTG, which led to a leu125-to-val substitution; they designated the resulting alleles CD31.11 (wildtype) and CD31.V. Among 163 subjects studied overall, the frequencies of CD31.L homozygotes (0.30), CD31.V homozygotes (0.28), and CD31.L/CD31.V heterozygotes (0.42) were a good fit to the Hardy-Weinberg equilibrium. Among the transplant recipients, 71% of those with acute GVHD had CD31 genotypes that were not identical to the donor's genotype, as compared with 22% of the recipients without GVHD (P = 0.004).

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

Last Updated: Apr 23, 2022

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