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

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 [Variation Report for NM_000062.3(SERPING1):c.326_327del (p.Leu109fs)]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004430833Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 13, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024