NM_000062.3(SERPING1):c.1361del (p.Val454fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 16, 2021
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:: RCV001949529.6

Allele description [Variation Report for NM_000062.3(SERPING1):c.1361del (p.Val454fs)]

NM_000062.3(SERPING1):c.1361del (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.1361del (p.Val454fs)

HGVS:

NC_000011.10:g.57614439del
NG_009625.1:g.21886del
NM_000062.3:c.1361delMANE SELECT
NM_001032295.2:c.1361del
NP_000053.2:p.Val454fs
NP_001027466.1:p.Val454fs
LRG_105:g.21886del
NC_000011.9:g.57381912del

Protein change:

V454fs

Links:

dbSNP: rs2135328012

NCBI 1000 Genomes Browser:

rs2135328012

Molecular consequence:

NM_000062.3:c.1361del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001032295.2:c.1361del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002238458	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 16, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 8755917, 30508583, 32065705, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002238458

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 16, 2021)

germline

clinical testing

PubMed (4)
[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

Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M.

Am J Hum Genet. 1996 Aug;59(2):308-19.

PubMed [citation]

PMID:: 8755917
PMCID:: PMC1914725

SERPING1 mutation in a rare hereditary angioedema with skin blisters.

Serpa FS, Veronez CL, Campinhos FL, Moyses TR, Pesquero JB.

Ann Allergy Asthma Immunol. 2019 Mar;122(3):340-341. doi: 10.1016/j.anai.2018.11.026. Epub 2018 Nov 30. No abstract available.

PubMed [citation]

PMID:: 30508583

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002238458.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SERPING1 protein. Other variant(s) that disrupt this region (p.Arg494*) have been determined to be pathogenic (PMID: 8755917, 30508583, 32065705). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SERPING1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the SERPING1 gene (p.Val454Glyfs*122). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the SERPING1 protein and extend the protein by 74 additional amino acid residues.

#	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: Sep 29, 2024

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