NM_000074.3(CD40LG):c.229del (p.Arg77fs) AND Hyper-IgM syndrome type 1

Germline classification:: Pathogenic (1 submission)
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:: RCV002468418.8

Allele description [Variation Report for NM_000074.3(CD40LG):c.229del (p.Arg77fs)]

NM_000074.3(CD40LG):c.229del (p.Arg77fs)

Gene:

CD40LG:CD40 ligand [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_000074.3(CD40LG):c.229del (p.Arg77fs)

HGVS:

NC_000023.11:g.136650338del
NG_007280.1:c.229delA
NG_007280.1:g.7162del
NM_000074.3:c.229delMANE SELECT
NP_000065.1:p.Arg77Aspfs
NP_000065.1:p.Arg77fs
LRG_141t1:c.229del
LRG_141:g.7162del
LRG_141p1:p.Arg77Aspfs
NC_000023.10:g.135732497del
NG_007280.1:c.229delA
NM_000074.2:c.229delA

Protein change:

R77fs

Molecular consequence:

NM_000074.3:c.229del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002764231	Molecular Oncology, MVR Cancer Centre and Research Institute	no assertion criteria provided	Pathogenic	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764231

Molecular Oncology, MVR Cancer Centre and Research Institute

no assertion criteria provided

Pathogenic

maternal

clinical testing

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report.

Ramachandran R, Krishnan Y, Singh P, Kumar A, Mohanty A.

Immunogenetics. 2023 Apr;75(2):191-194. doi: 10.1007/s00251-022-01289-y. Epub 2022 Dec 7.

PubMed [citation]

PMID:: 36478253

Details of each submission

From Molecular Oncology, MVR Cancer Centre and Research Institute, SCV002764231.1

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

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

Last Updated: May 1, 2024

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