NM_000062.3(SERPING1):c.326_327del (p.Leu109fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 13, 2023
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:: RCV003690267.1

Allele description

NM_000062.3(SERPING1):c.326_327del (p.Leu109fs)

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.326_327del (p.Leu109fs)

HGVS:

NC_000011.10:g.57600153_57600154del
NG_009625.1:g.7600_7601del
NM_000062.3:c.326_327delMANE SELECT
NM_001032295.2:c.326_327del
NP_000053.2:p.Leu109Profs
NP_000053.2:p.Leu109fs
NP_001027466.1:p.Leu109fs
LRG_105t1:c.326_327del
LRG_105:g.7600_7601del
LRG_105p1:p.Leu109Profs
NC_000011.9:g.57367625_57367626del
NC_000011.9:g.57367626_57367627del
NM_000062.2:c.326_327delTC

Protein change:

L109fs

Molecular consequence:

NM_000062.3:c.326_327del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001032295.2:c.326_327del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Glycoproteins found on the membrane or surface of cells. Year introduced: 1988

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Syndecans
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A family of transmembrane glycoproteins that contain a short cytoplasmic domain, a single-span transmembrane domain, and an extracellular domain with heparin sulfate and CHOND... Year introduced: 2007(1989)

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Glycated Serum Proteins
Glycated Serum Proteins
Proteins in serum that have undergone, in vivo, non-enzymatic modification with reducing sugars via the MAILLARD REACTION. They are analyzed to measure control of HYPERGLYCEMI... Year introduced: 2023

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004430833	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 13, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11112899, 24456027, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004430833

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 13, 2023)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema.

Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, Tosi M.

J Allergy Clin Immunol. 2000 Dec;106(6):1147-54.

PubMed [citation]

PMID:: 11112899

Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.

Bafunno V, Bova M, Loffredo S, Divella C, Petraroli A, Marone G, Montinaro V, Margaglione M, Triggiani M.

Ann Hum Genet. 2014 Mar;78(2):73-82. doi: 10.1111/ahg.12052. Epub 2014 Jan 24.

PubMed [citation]

PMID:: 24456027

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004430833.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Leu109Profs*23) in the SERPING1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SERPING1 are known to be pathogenic (PMID: 11112899, 24456027). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SERPING1-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 28, 2024

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