NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) AND Hereditary C1 esterase inhibitor deficiency - dysfunctional factor - ClinVar

NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) AND Hereditary C1 esterase inhibitor deficiency - dysfunctional factor

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1992
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:: RCV000004151.4

Allele description [Variation Report for NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr)]

NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr)

Gene:

SERPING1:serpin family G member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.1

Genomic location:

Preferred name:

NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr)

Other names:

A436T

HGVS:

NC_000011.10:g.57614450G>A
NG_009625.1:g.21897G>A
NM_000062.3:c.1372G>AMANE SELECT
NM_001032295.2:c.1372G>A
NP_000053.2:p.Ala458Thr
NP_001027466.1:p.Ala458Thr
LRG_105:g.21897G>A
NC_000011.9:g.57381923G>A
P05155:p.Ala458Thr

Protein change:

A458T; ALA436THR

Links:

UniProtKB: P05155#VAR_007016; OMIM: 606860.0002; dbSNP: rs121907947

NCBI 1000 Genomes Browser:

rs121907947

Molecular consequence:

NM_000062.3:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001032295.2:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (HAE2)
Synonyms:: Hereditary angioedema, type II
Identifiers:: MONDO: MONDO:0015054; MedGen: C0398776

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024317	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1992)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 2296585, 1363816

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024317

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1992)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

Levy NJ, Ramesh N, Cicardi M, Harrison RA, Davis AE 3rd.

Proc Natl Acad Sci U S A. 1990 Jan;87(1):265-8.

PubMed [citation]

PMID:: 2296585
PMCID:: PMC53243

C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.

Davis AE 3rd, Aulak K, Parad RB, Stecklein HP, Eldering E, Hack CE, Kramer J, Strunk RC, Bissler J, Rosen FS.

Nat Genet. 1992 Aug;1(5):354-8.

PubMed [citation]

PMID:: 1363816

Details of each submission

From OMIM, SCV000024317.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 2 unrelated families with hereditary angioedema-2 (HAE2; 106100), Levy et al. (1990) demonstrated a G-to-A transition in the C1NH gene, resulting in an ala436-to-thr (A436T) substitution. This position is 9 amino acid residues amino-terminal to the reactive-center arginylthreonine peptide bond. Previously defined mutations in HAE2 resulted in replacement of the reactive-center arginine. Davis et al. (1992) showed that the dysfunction demonstrated by this mutation results from a block in the interaction with target protease.

#	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: Apr 23, 2022

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