NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) AND SERPINE1-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 18, 2020
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:: RCV003982840.2

Allele description [Variation Report for NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)]

NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)

Other names:

A15T

HGVS:

NC_000007.14:g.101128436G>A
NG_013213.1:g.6339G>A
NM_000602.5:c.43G>AMANE SELECT
NM_001386456.1:c.-32-178G>A
NM_001386457.1:c.43G>A
NM_001386458.1:c.43G>A
NM_001386459.1:c.43G>A
NM_001386460.1:c.43G>A
NM_001386461.1:c.43G>A
NM_001386462.1:c.-69-90G>A
NM_001386463.1:c.37G>A
NM_001386464.1:c.43G>A
NM_001386465.1:c.43G>A
NM_001386466.1:c.43G>A
NP_000593.1:p.Ala15Thr
NP_001373386.1:p.Ala15Thr
NP_001373387.1:p.Ala15Thr
NP_001373388.1:p.Ala15Thr
NP_001373389.1:p.Ala15Thr
NP_001373390.1:p.Ala15Thr
NP_001373392.1:p.Ala13Thr
NP_001373393.1:p.Ala15Thr
NP_001373394.1:p.Ala15Thr
NP_001373395.1:p.Ala15Thr
LRG_597t1:c.43G>A
LRG_597:g.6339G>A
LRG_597p1:p.Ala15Thr
NC_000007.13:g.100771717G>A
NM_000602.4:c.43G>A
P05121:p.Ala15Thr

Protein change:

A13T; ALA15THR

Links:

UniProtKB: P05121#VAR_007099; OMIM: 173360.0003; dbSNP: rs6092

NCBI 1000 Genomes Browser:

rs6092

Molecular consequence:

NM_001386456.1:c.-32-178G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001386462.1:c.-69-90G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000602.5:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386457.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386458.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386459.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386460.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386461.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386463.1:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386464.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386465.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386466.1:c.43G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: SERPINE1-related disorder
Synonyms:: SERPINE1-related condition
Identifiers:

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CG14419 uncharacterized protein [Drosophila melanogaster]
CG14419 uncharacterized protein [Drosophila melanogaster]
Gene ID:31276

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004796228	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Aug 18, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004796228

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Aug 18, 2020)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004796228.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 26, 2024

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