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NM_000062.3(SERPING1):c.1249+1G>A AND Hereditary angioedema type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 27, 2024
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:
RCV004597219.1

Allele description [Variation Report for NM_000062.3(SERPING1):c.1249+1G>A]

NM_000062.3(SERPING1):c.1249+1G>A

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.1249+1G>A
HGVS:
  • NC_000011.10:g.57611937G>A
  • NG_009625.1:g.19384G>A
  • NM_000062.3:c.1249+1G>AMANE SELECT
  • NM_001032295.2:c.1249+1G>A
  • LRG_105:g.19384G>A
  • NC_000011.9:g.57379410G>A
Links:
dbSNP: rs112565881
NCBI 1000 Genomes Browser:
rs112565881
Molecular consequence:
  • NM_000062.3:c.1249+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001032295.2:c.1249+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hereditary angioedema type 1 (HAE1)
Synonyms:
Deficiency of C1 esterase inhibitor
Identifiers:
MONDO: MONDO:0015053; MedGen: C2717906; Orphanet: 100050; Orphanet: 100051; Orphanet: 91378; OMIM: 106100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005088592DNA-diagnostics Laboratory, Research Centre For Medical Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 27, 2024) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not providednot providednot providedresearch

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

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India.

Jindal AK, Rawat A, Kaur A, Sharma D, Suri D, Gupta A, Garg R, Dogra S, Saikia B, Minz RW, Singh S.

Pediatr Allergy Immunol. 2021 Apr;32(3):599-611. doi: 10.1111/pai.13420. Epub 2020 Dec 5.

PubMed [citation]
PMID:
33220126
See all PubMed Citations (3)

Details of each submission

From DNA-diagnostics Laboratory, Research Centre For Medical Genetics, SCV005088592.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (3)

Description

According to our observation and published information (Gösswein et al., 2008, Jindal et al., 2020) the c.1249+1G>A variant in SERPING1 meets ACMG/ClinGen SVI guidance criteria to be classified as pathogenic: PVS1_Str, PP4_Str, PS4_Mod, PM2_Sup, PP1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided1not provided

Last Updated: Aug 11, 2024