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NM_000062.3(SERPING1):c.322C>T (p.Gln108Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 4, 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:
RCV003557595.1

Allele description

NM_000062.3(SERPING1):c.322C>T (p.Gln108Ter)

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.322C>T (p.Gln108Ter)
HGVS:
  • NC_000011.10:g.57600149C>T
  • NG_009625.1:g.7596C>T
  • NM_000062.3:c.322C>TMANE SELECT
  • NM_001032295.2:c.322C>T
  • NP_000053.2:p.Gln108Ter
  • NP_000053.2:p.Gln108Ter
  • NP_001027466.1:p.Gln108Ter
  • LRG_105t1:c.322C>T
  • LRG_105:g.7596C>T
  • LRG_105p1:p.Gln108Ter
  • NC_000011.9:g.57367622C>T
  • NM_000062.2:c.322C>T
Protein change:
Q108*
Molecular consequence:
  • NM_000062.3:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032295.2:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004294829Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 4, 2023) 		germlineclinical testing

PubMed (4)
[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

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.

Gösswein T, Kocot A, Emmert G, Kreuz W, Martinez-Saguer I, Aygören-Pürsün E, Rusicke E, Bork K, Oldenburg J, Müller CR.

Cytogenet Genome Res. 2008;121(3-4):181-8. doi: 10.1159/000138883. Epub 2008 Aug 28.

PubMed [citation]
PMID:
18758157

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
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004294829.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hereditary angioedema (PMID: 18758157). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln108*) 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).

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

Last Updated: Feb 20, 2024