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NM_000062.3(SERPING1):c.1033G>A (p.Gly345Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 25, 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:
RCV003557602.1

Allele description

NM_000062.3(SERPING1):c.1033G>A (p.Gly345Arg)

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.1033G>A (p.Gly345Arg)
HGVS:
  • NC_000011.10:g.57611720G>A
  • NG_009625.1:g.19167G>A
  • NM_000062.3:c.1033G>AMANE SELECT
  • NM_001032295.2:c.1033G>A
  • NP_000053.2:p.Gly345Arg
  • NP_000053.2:p.Gly345Arg
  • NP_001027466.1:p.Gly345Arg
  • LRG_105t1:c.1033G>A
  • LRG_105:g.19167G>A
  • LRG_105p1:p.Gly345Arg
  • NC_000011.9:g.57379193G>A
  • NM_000062.2:c.1033G>A
Protein change:
G345R
Molecular consequence:
  • NM_000062.3:c.1033G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001032295.2:c.1033G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004294840Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 25, 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

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Roche O, Blanch A, Duponchel C, Fontán G, Tosi M, López-Trascasa M.

Hum Mutat. 2005 Aug;26(2):135-44.

PubMed [citation]
PMID:
15971231

Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.

Kang HR, Yim EY, Oh SY, Chang YS, Kim YK, Cho SH, Min KU, Kim YY.

Allergy. 2006 Feb;61(2):260-4.

PubMed [citation]
PMID:
16409206
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004294840.1

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

Description

This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 345 of the SERPING1 protein (p.Gly345Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hereditary angioedema (PMID: 15971231, 16409206). It has also been observed to segregate with disease in related individuals. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SERPING1 protein function with a positive predictive value of 80%. This variant disrupts the p.Gly345 amino acid residue in SERPING1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 20, 2024