NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 1, 1990
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000018586.2

Allele description [Variation Report for NM_000064.4(C3):c.941C>T (p.Pro314Leu)]

NM_000064.4(C3):c.941C>T (p.Pro314Leu)

Gene:

C3:complement C3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_000064.4(C3):c.941C>T (p.Pro314Leu)

Other names:

C3, LEU314PRO; L314P

HGVS:

NC_000019.10:g.6713251G>A
NG_009557.1:g.12401C>T
NM_000064.4:c.941C>TMANE SELECT
NP_000055.2:p.Pro314Leu
LRG_27t1:c.941C>T
LRG_27:g.12401C>T
LRG_27p1:p.Pro314Leu
NC_000019.9:g.6713262G>A
NM_000064.2:c.941C>T
NM_000064.3:c.941C>T
P01024:p.Pro314Leu

Protein change:

P314L; LEU314PRO

Links:

UniProtKB: P01024#VAR_001984; OMIM: 120700.0002; dbSNP: rs1047286

NCBI 1000 Genomes Browser:

rs1047286

Molecular consequence:

NM_000064.4:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038869	OMIM	no assertion criteria provided	Benign (Oct 1, 1990)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038869

OMIM

no assertion criteria provided

Benign
(Oct 1, 1990)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular basis of polymorphisms of human complement component C3.

Botto M, Fong KY, So AK, Koch C, Walport MJ.

J Exp Med. 1990 Oct 1;172(4):1011-7.

PubMed [citation]

PMID:: 1976733
PMCID:: PMC2188593

Details of each submission

From OMIM, SCV000038869.1

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

Description

Botto et al. (1990) identified the molecular basis of a structural polymorphism of C3, identified by the monoclonal antibody HAV 4-1: codon 314 in exon 9 of the beta chain showed a change of a proline residue in the HAV 4-1(-) form to a leucine residue in the HAV 4-1(+) form.

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

Last Updated: Feb 28, 2024

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