NM_000301.5(PLG):c.1848G>A (p.Trp616Ter) AND Plasminogen deficiency, type I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1997
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:: RCV000014546.26

Allele description [Variation Report for NM_000301.5(PLG):c.1848G>A (p.Trp616Ter)]

NM_000301.5(PLG):c.1848G>A (p.Trp616Ter)

Genes:

LOC126859861:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:161158745-161159944 [Gene]
PLG:plasminogen [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

Preferred name:

NM_000301.5(PLG):c.1848G>A (p.Trp616Ter)

Other names:

W597*

HGVS:

NC_000006.12:g.160738583G>A
NG_016200.1:g.41391G>A
NM_000301.5:c.1848G>AMANE SELECT
NP_000292.1:p.Trp616Ter
LRG_571:g.41391G>A
NC_000006.11:g.161159615G>A

Protein change:

W616*; TRP597TER

Links:

OMIM: 173350.0005; dbSNP: rs121918031

NCBI 1000 Genomes Browser:

rs121918031

Molecular consequence:

NM_000301.5:c.1848G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Plasminogen deficiency, type I
Identifiers:: MedGen: C1968804; Orphanet: 722; OMIM: 217090

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034797	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1997)	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

SCV000034797

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1997)

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

Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.

Schuster V, Mingers AM, Seidenspinner S, Nüssgens Z, Pukrop T, Kreth HW.

Blood. 1997 Aug 1;90(3):958-66.

PubMed [citation]

PMID:: 9242524

Details of each submission

From OMIM, SCV000034797.2

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

Description

In a Turkish girl with severe plasminogen deficiency (217090) manifest as ligneous conjunctivitis and occlusive hydrocephalus, Schuster et al. (1997) identified a homozygous 1924G-A transition in exon 15 of the PLG gene, resulting in a trp597-to-ter (W597X) substitution. The healthy parents were heterozygous for the mutation.

#	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: Mar 26, 2023

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