NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) AND PI NULL(BOLTON)

Germline classification:: other (1 submission)
Last evaluated:: Jul 20, 2016
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:: RCV000019589.3

Allele description [Variation Report for NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)]

NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)

Gene:

SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q32.13

Genomic location:

Preferred name:

NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)

Other names:

PI NULL(BOLTON); PI Q0(BOLTON)

HGVS:

NC_000014.9:g.94378554del
NG_008290.1:g.17145del
NM_000295.5:c.1158delMANE SELECT
NM_001002235.3:c.1158del
NM_001002236.3:c.1158del
NM_001127700.2:c.1158del
NM_001127701.2:c.1158del
NM_001127702.2:c.1158del
NM_001127703.2:c.1158del
NM_001127704.2:c.1158del
NM_001127705.2:c.1158del
NM_001127706.2:c.1158del
NM_001127707.2:c.1158del
NP_000286.3:p.Glu387fs
NP_001002235.1:p.Glu387fs
NP_001002236.1:p.Glu387fs
NP_001121172.1:p.Glu387fs
NP_001121173.1:p.Glu387fs
NP_001121174.1:p.Glu387fs
NP_001121175.1:p.Glu387fs
NP_001121176.1:p.Glu387fs
NP_001121177.1:p.Glu387fs
NP_001121178.1:p.Glu387fs
NP_001121179.1:p.Glu387fs
LRG_575t1:c.1158del
LRG_575:g.17145del
LRG_575p1:p.Glu387fs
NC_000014.8:g.94844891del
NM_000295.4:c.1158del
NM_000295.5:c.1158del
p.Glu387Argfs*11

Protein change:

E387fs

Links:

LOVD 3: SERPINA1_000014; OMIM: 107400.0025; dbSNP: rs764325655

NCBI 1000 Genomes Browser:

rs764325655

Molecular consequence:

NM_000295.5:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001002235.3:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001002236.3:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127700.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127701.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127702.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127703.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127704.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127705.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127706.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127707.2:c.1158del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: PI NULL(BOLTON)
Identifiers:

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thiB [Erwinia billingiae Eb661]
thiB [Erwinia billingiae Eb661]
Gene ID:90510714

Gene
EbC_07010 AND (alive[prop]) (1)
Gene
potassium voltage-gated channel subfamily A member 2 isoform X1 [Rattus norvegic...
potassium voltage-gated channel subfamily A member 2 isoform X1 [Rattus norvegicus]
gi|1958749293|ref|XP_038957725.1|

Protein
Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/BRA/RJ-...
Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/BRA/RJ-DCVN1/2020, complete genome
gi|1883806255|gb|MT827202.1|

Nucleotide
Type 1 diabetes: Learn More – Types of insulin - InformedHealth.org
Type 1 diabetes: Learn More – Types of insulin - InformedHealth.org

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039887	OMIM	no assertion criteria provided	other (Jul 20, 2016)	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

SCV000039887

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

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

A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.

Frazier GC, Siewertsen MA, Hofker MH, Brubacher MG, Cox DW.

J Clin Invest. 1990 Dec;86(6):1878-84.

PubMed [citation]

PMID:: 2254451
PMCID:: PMC329821

Details of each submission

From OMIM, SCV000039887.2

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

Description

Fraizer et al. (1989) observed a unique PI null allele. By cloning and sequencing the allele, they demonstrated deletion of a single cytosine residue (the third C in the CCC codon 362 for proline) near the active site of alpha-1-antitrypsin in exon 5 resulting in a frameshift which caused an in-frame stop codon downstream of the deletion. The stop codon led to premature termination of protein translation at amino acid 373, resulting in a truncated protein. PI Q0(Bolton) was observed in combination with PI*M(Malton) in 2 compound heterozygotes. The allele carries a high risk of emphysema.

#	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: Jun 17, 2024

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