NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) AND Immunodeficiency, common variable, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 1, 2022
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:: RCV002283439.8

Allele description [Variation Report for NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)]

NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)

Gene:

TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)

HGVS:

NC_000017.11:g.16948873A>G
NG_007281.1:g.28216T>C
NM_012452.3:c.310T>CMANE SELECT
NP_036584.1:p.Cys104Arg
NP_036584.1:p.Cys104Arg
LRG_120t1:c.310T>C
LRG_120:g.28216T>C
LRG_120p1:p.Cys104Arg
NC_000017.10:g.16852187A>G
NM_012452.2:c.310T>C
NM_012452.3:c.310T>C
O14836:p.Cys104Arg
p.(Cys104Arg)

Protein change:

C104R; CYS104ARG

Links:

UniProtKB: O14836#VAR_024027; OMIM: 604907.0001; dbSNP: rs34557412

NCBI 1000 Genomes Browser:

rs34557412

Molecular consequence:

NM_012452.3:c.310T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Immunodeficiency, common variable, 1
Synonyms:: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT
Identifiers:: MONDO: MONDO:0011864; MedGen: C3149378; Orphanet: 1572; OMIM: 607594

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002573414	Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	no assertion criteria provided	Likely pathogenic (May 1, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002573414

Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"

no assertion criteria provided

Likely pathogenic
(May 1, 2022)

germline

clinical testing

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 Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska", SCV002573414.1

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

#	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: Oct 26, 2024

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