NM_000602.5(SERPINE1):c.*997_*1005dup AND Congenital plasminogen activator inhibitor type 1 deficiency

NM_000602.5(SERPINE1):c.997_1005dup AND Congenital plasminogen activator inhibitor type 1 deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000386609.5

Allele description [Variation Report for NM_000602.5(SERPINE1):c.997_1005dup]

NM_000602.5(SERPINE1):c.997_1005dup

Gene:

SERPINE1:serpin family E member 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_000602.5(SERPINE1):c.*997_*1005dup

HGVS:

NC_000007.14:g.101138439_101138447dup
NG_013213.1:g.16342_16350dup
NM_000602.5:c.*997_*1005dupMANE SELECT
NM_001386456.1:c.*997_*1005dup
NM_001386457.1:c.*1008_*1016dup
NM_001386458.1:c.*997_*1005dup
NM_001386459.1:c.*342_*350dup
NM_001386460.1:c.*342_*350dup
NM_001386461.1:c.*342_*350dup
NM_001386462.1:c.*997_*1005dup
NM_001386463.1:c.*997_*1005dup
NM_001386464.1:c.*1088_*1096dup
NM_001386465.1:c.*997_*1005dup
NM_001386466.1:c.*997_*1005dup
LRG_597:g.16342_16350dup
NC_000007.13:g.100781720_100781728dup
NM_000602.4:c.*997_*1005dupCCGCGCCCC

Links:

dbSNP: rs41423845

NCBI 1000 Genomes Browser:

rs41423845

Molecular consequence:

NM_000602.5:c.*997_*1005dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386456.1:c.*997_*1005dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386457.1:c.*1008_*1016dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386458.1:c.*997_*1005dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386459.1:c.*342_*350dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386460.1:c.*342_*350dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386461.1:c.*342_*350dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386462.1:c.*997_*1005dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386463.1:c.*997_*1005dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386464.1:c.*1088_*1096dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386465.1:c.*997_*1005dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001386466.1:c.*997_*1005dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Congenital plasminogen activator inhibitor type 1 deficiency
Synonyms:: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY; Plasminogen activator inhibitor type 1 deficiency
Identifiers:: MONDO: MONDO:0013227; MedGen: C2750067; Orphanet: 465; OMIM: 613329

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000465850	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000465850

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000465850.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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