NM_000062.3(SERPING1):c.1412T>C (p.Phe471Ser) AND Hereditary angioedema type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 28, 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:: RCV004597239.1

Allele description [Variation Report for NM_000062.3(SERPING1):c.1412T>C (p.Phe471Ser)]

NM_000062.3(SERPING1):c.1412T>C (p.Phe471Ser)

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.1412T>C (p.Phe471Ser)

HGVS:

NC_000011.10:g.57614490T>C
NG_009625.1:g.21937T>C
NM_000062.3:c.1412T>CMANE SELECT
NM_001032295.2:c.1412T>C
NP_000053.2:p.Phe471Ser
NP_000053.2:p.Phe471Ser
NP_001027466.1:p.Phe471Ser
LRG_105t1:c.1412T>C
LRG_105:g.21937T>C
LRG_105p1:p.Phe471Ser
NC_000011.9:g.57381963T>C
NM_000062.2:c.1412T>C

Protein change:

F471S

Molecular consequence:

NM_000062.3:c.1412T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001032295.2:c.1412T>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005088628	DNA-diagnostics Laboratory, Research Centre For Medical Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 28, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005088628

DNA-diagnostics Laboratory, Research Centre For Medical Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 28, 2024)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From DNA-diagnostics Laboratory, Research Centre For Medical Genetics, SCV005088628.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	research	PubMed (1)

Description

According to our observation the c.1412T>C variant in SERPING1 meets ACMG/ClinGen SVI guidance criteria to be classified as likely pathogenic: PP4_Str, PM2_Sup, PP2, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 11, 2024

ClinVar

Relating variation to medicine