NM_000301.5(PLG):c.1120G>T (p.Val374Phe) AND Dysplasminogenemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1991
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:: RCV000014543.25

Allele description [Variation Report for NM_000301.5(PLG):c.1120G>T (p.Val374Phe)]

NM_000301.5(PLG):c.1120G>T (p.Val374Phe)

Gene:

PLG:plasminogen [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

Preferred name:

NM_000301.5(PLG):c.1120G>T (p.Val374Phe)

Other names:

V355F

HGVS:

NC_000006.12:g.160722431G>T
NG_016200.1:g.25239G>T
NM_000301.5:c.1120G>TMANE SELECT
NP_000292.1:p.Val374Phe
LRG_571:g.25239G>T
NC_000006.11:g.161143463G>T
P00747:p.Val374Phe

Protein change:

V374F; VAL355PHE

Links:

UniProtKB: P00747#VAR_006627; OMIM: 173350.0002; dbSNP: rs121918028

NCBI 1000 Genomes Browser:

rs121918028

Molecular consequence:

NM_000301.5:c.1120G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dysplasminogenemia
Identifiers:: MONDO: MONDO:0100538; MedGen: C4225445

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034794	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1991)	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

SCV000034794

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1991)

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

Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis.

Ichinose A, Espling ES, Takamatsu J, Saito H, Shinmyozu K, Maruyama I, Petersen TE, Davie EW.

Proc Natl Acad Sci U S A. 1991 Jan 1;88(1):115-9. Erratum in: Proc Natl Acad Sci U S A 1991 Apr 1;88(7):2967.

PubMed [citation]

PMID:: 1986355
PMCID:: PMC50760

Details of each submission

From OMIM, SCV000034794.1

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

Description

Ichinose et al. (1991) described a G-to-T transversion in exon 10 of the PLG gene, resulting in a val355-to-phe (V355F) substitution just prior to the first disulfide bond in kringle 4. The V355F substitution was associated with decreased plasminogen activity and antigen levels (see 217090). This mutation was demonstrated by digestion with AvaII endonuclease, which recognized the normal GGTCC but not GTTCC.

This variant has been called plasminogen Nagoya I.

#	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: Feb 20, 2024

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