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NM_000062.3(SERPING1):c.221C>A (p.Ser74Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 4, 2020
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:
RCV001388357.5

Allele description [Variation Report for NM_000062.3(SERPING1):c.221C>A (p.Ser74Ter)]

NM_000062.3(SERPING1):c.221C>A (p.Ser74Ter)

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.221C>A (p.Ser74Ter)
HGVS:
  • NC_000011.10:g.57600048C>A
  • NG_009625.1:g.7495C>A
  • NM_000062.3:c.221C>AMANE SELECT
  • NM_001032295.2:c.221C>A
  • NP_000053.2:p.Ser74Ter
  • NP_001027466.1:p.Ser74Ter
  • LRG_105:g.7495C>A
  • NC_000011.9:g.57367521C>A
Protein change:
S74*
Links:
dbSNP: rs2135308212
NCBI 1000 Genomes Browser:
rs2135308212
Molecular consequence:
  • NM_000062.3:c.221C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032295.2:c.221C>A - 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
SCV001589292Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 4, 2020) 		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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001589292.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SERPING1 are known to be pathogenic (PMID: 11112899, 24456027). This variant has not been reported in the literature in individuals with SERPING1-related conditions. This sequence change creates a premature translational stop signal (p.Ser74*) in the SERPING1 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024