NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 7, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000490123.2

Allele description [Variation Report for NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)]

NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)

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.658C>T (p.Gln220Ter)

HGVS:

NC_000023.11:g.136659287C>T
NG_007280.1:g.16111C>T
NM_000074.3:c.658C>TMANE SELECT
NP_000065.1:p.Gln220Ter
NP_000065.1:p.Gln220Ter
LRG_141t1:c.658C>T
LRG_141:g.16111C>T
LRG_141p1:p.Gln220Ter
NC_000023.10:g.135741446C>T
NM_000074.2:c.658C>T

Protein change:

Q220*

Links:

dbSNP: rs1085307733

NCBI 1000 Genomes Browser:

rs1085307733

Molecular consequence:

NM_000074.3:c.658C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000577168	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000577168

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 7, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000577168.3

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

Description

The Q220X nonsense variant in the CYBB gene has been reported previously in association with X-linked Hyper-IgM syndrome (Jayoussi-Assalia et al., 2000; Lee et al., 2005; Vargas-HernÃ¡ndez et al., 2013). While this variant is not predicted to result in nonsense-mediated decay, it is predicted to cause loss of normal protein function through protein truncation, as the final 42 amino acids are lost. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.

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

Last Updated: Sep 29, 2024

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