NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) AND Hyper-IgM syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 29, 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:: RCV000011907.5

Allele description [Variation Report for NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro)]

NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro)

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.703G>C (p.Ala235Pro)

HGVS:

NC_000023.11:g.136659332G>C
NG_007280.1:g.16156G>C
NM_000074.3:c.703G>CMANE SELECT
NP_000065.1:p.Ala235Pro
LRG_141:g.16156G>C
NC_000023.10:g.135741491G>C
P29965:p.Ala235Pro

Protein change:

A235P; ALA235PRO

Links:

UniProtKB: P29965#VAR_007527; OMIM: 300386.0001; dbSNP: rs104894771

NCBI 1000 Genomes Browser:

rs104894771

Molecular consequence:

NM_000074.3:c.703G>C - 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
SCV000032140	OMIM	no assertion criteria provided	Pathogenic (Jan 29, 1993)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7678782, 1385114

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032140

OMIM

no assertion criteria provided

Pathogenic
(Jan 29, 1993)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.

Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, Bajorath J, Grosmaire LS, Stenkamp R, Neubauer M, et al.

Cell. 1993 Jan 29;72(2):291-300.

PubMed [citation]

PMID:: 7678782

The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity.

Hollenbaugh D, Grosmaire LS, Kullas CD, Chalupny NJ, Braesch-Andersen S, Noelle RJ, Stamenkovic I, Ledbetter JA, Aruffo A.

EMBO J. 1992 Dec;11(12):4313-21.

PubMed [citation]

PMID:: 1385114
PMCID:: PMC557004

Details of each submission

From OMIM, SCV000032140.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with hyper-IgM syndrome-1 (HIGM1; 308230), Aruffo et al. (1993) identified a G-to-C transversion at position 724 (numbering according to Hollenbaugh et al., 1992) predicted to result in replacement of ala235 by pro in the cDNA encoding CD40 ligand.

#	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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