NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) AND Hyper-IgM syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 1993
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:: RCV000011909.9

Allele description [Variation Report for NM_000074.3(CD40LG):c.680G>T (p.Gly227Val)]

NM_000074.3(CD40LG):c.680G>T (p.Gly227Val)

Gene:

CD40LG:CD40 ligand [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_000074.3(CD40LG):c.680G>T (p.Gly227Val)

HGVS:

NC_000023.11:g.136659309G>T
NG_007280.1:g.16133G>T
NM_000074.3:c.680G>TMANE SELECT
NP_000065.1:p.Gly227Val
LRG_141:g.16133G>T
NC_000023.10:g.135741468G>T
P29965:p.Gly227Val

Protein change:

G227V; GLY227VAL

Links:

UniProtKB: P29965#VAR_007524; OMIM: 300386.0003; dbSNP: rs104894768

NCBI 1000 Genomes Browser:

rs104894768

Molecular consequence:

NM_000074.3:c.680G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyper-IgM syndrome type 1
Synonyms:: Immunodeficiency with hyper IgM type 1; Hyper IgM immunodeficiency, X-linked; Hyper-IgM Immunodeficiency Syndrome, Type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010626; MedGen: C0398689; OMIM: 308230

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032142	OMIM	no assertion criteria provided	Pathogenic (Feb 12, 1993)	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

SCV000032142

OMIM

no assertion criteria provided

Pathogenic
(Feb 12, 1993)

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

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, et al.

Science. 1993 Feb 12;259(5097):990-3.

PubMed [citation]

PMID:: 7679801

Details of each submission

From OMIM, SCV000032142.3

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

Description

Allen et al. (1993) identified a substitution of valine for glycine at position 227 of the CD40LG gene in a patient with hyper-IgM syndrome-1 (HIGM1; 308230) (the codons were numbered from the initiating methionine).

#	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 6, 2024

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