NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 29, 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:: RCV002383476.2

Allele description [Variation Report for NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)]

NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q12.1

Genomic location:

Preferred name:

NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)

HGVS:

NC_000011.10:g.57614438_57614471del
NG_009625.1:g.21885_21918del
NM_000062.3:c.1360_1393delMANE SELECT
NM_001032295.2:c.1360_1393del
NP_000053.2:p.Val454Profs
NP_000053.2:p.Val454fs
NP_001027466.1:p.Val454fs
LRG_105t1:c.1360_1393del34
LRG_105:g.21885_21918del
LRG_105p1:p.Val454Profs
NC_000011.9:g.57381911_57381944del
NM_000062.2:c.1360_1393del34

Protein change:

V454fs

Molecular consequence:

NM_000062.3:c.1360_1393del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001032295.2:c.1360_1393del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002697560	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 29, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 3756141, 8125476 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002697560

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 29, 2016)

germline

clinical testing

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

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

Citations

PubMed

Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.

Bock SC, Skriver K, Nielsen E, Thøgersen HC, Wiman B, Donaldson VH, Eddy RL, Marrinan J, Radziejewska E, Huber R, et al.

Biochemistry. 1986 Jul 29;25(15):4292-301.

PubMed [citation]

PMID:: 3756141

Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema.

Bissler JJ, Donaldson VH, Davis AE 3rd.

Hum Genet. 1994 Mar;93(3):265-9.

PubMed [citation]

PMID:: 8125476

Details of each submission

From Ambry Genetics, SCV002697560.2

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

Description

The c.1360_1393del34 pathogenic mutation, located in coding exon 7 of the SERPING1 gene, results from a deletion of 34 nucleotides at nucleotide positions 1360 to 1393, causing a translational frameshift with a predicted alternate stop codon (p.V454Pfs*111). This frameshift, which occurs at the 3' terminus of SERPING1, impacts the last 47 amino acids of the protein in addition to elongating the protein by 63 amino acids. Structural analysis shows that this alteration perturbs a known functional domain and eliminates the cleavage site for protease, which is essential for the inhibitor to perform its function (Bock SC et al. Biochemistry, 1986 Jul;25:4292-301). In addition, this mutation was detected in an individual with hereditary angioedema type I (Bissler JJ et al. Hum. Genet., 1994 Mar;93:265-9). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

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