NM_001145252.3(CFP):c.617C>G (p.Ser206Ter) AND Properdin deficiency, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2000
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:: RCV000011934.7

Allele description [Variation Report for NM_001145252.3(CFP):c.617C>G (p.Ser206Ter)]

NM_001145252.3(CFP):c.617C>G (p.Ser206Ter)

Gene:

CFP:complement factor properdin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_001145252.3(CFP):c.617C>G (p.Ser206Ter)

Other names:

S179*

HGVS:

NC_000023.11:g.47627290G>C
NG_009893.1:g.8016C>G
NM_001145252.3:c.617C>GMANE SELECT
NM_002621.2:c.617C>G
NP_001138724.1:p.Ser206Ter
NP_002612.1:p.Ser206Ter
LRG_129t1:c.617C>G
LRG_129:g.8016C>G
LRG_129p1:p.Ser206Ter
NC_000023.10:g.47486689G>C

Protein change:

S206*; SER179TER

Links:

OMIM: 300383.0004; dbSNP: rs132630260

NCBI 1000 Genomes Browser:

rs132630260

Molecular consequence:

NM_001145252.3:c.617C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_002621.2:c.617C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Properdin deficiency, X-linked (CFPD)
Synonyms:: PROPERDIN DEFICIENCY, TYPE I; Properdin P factor deficiency; Properdin deficiency, type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010713; MedGen: C1839454; OMIM: 312060

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032167	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2000)	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

SCV000032167

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2000)

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 characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM.

Eur J Hum Genet. 2000 Jul;8(7):513-8.

PubMed [citation]

PMID:: 10909851

Details of each submission

From OMIM, SCV000032167.1

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

Description

In affected members of a Dutch family with type I properdin deficiency (312060), van den Bogaard et al. (2000) found a 3041C-G transversion in exon 6 of the PFC gene, converting codon 179 from serine to stop.

#	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: Apr 23, 2022

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