NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) AND not specified

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 27, 2018
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:: RCV000507544.15

Allele description

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]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

actin-binding LIM protein 2 isoform X33 [Homo sapiens]
actin-binding LIM protein 2 isoform X33 [Homo sapiens]
gi|2462599391|ref|XP_054207055.1|

Protein
ankyrin repeat and SOCS box protein 13 isoform X1 [Anas platyrhynchos]
ankyrin repeat and SOCS box protein 13 isoform X1 [Anas platyrhynchos]
gi|1944698669|ref|XP_027317235.2|

Protein
ankyrin repeat and SOCS box protein 13 isoform X2 [Falco naumanni]
ankyrin repeat and SOCS box protein 13 isoform X2 [Falco naumanni]
gi|2023138208|ref|XP_040451791.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000966775	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jul 27, 2018)	germline	clinical testing	PubMed (34) [See all records that cite these PMIDs] 27123465, 29114388, 26100089, 26122175, 16007087, 26727773, 22699762, 25174870, 27577878, 29867916, 16007086, 17492055, 22697072, 22983507, 21419480, 19629655, 16630947, 18981294, 19210517, 21850030, 21547394, 23237420, 19392801, 19779048, 24051380, 22076597, 21458042, 29146883, 22627058, 29555771, 20889194, 22884984, 17392797, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000966775

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jul 27, 2018)

germline

clinical testing

PubMed (34)
[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	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.

Pulvirenti F, Zuntini R, Milito C, Specchia F, Spadaro G, Danieli MG, Pession A, Quinti I, Ferrari S.

J Immunol Res. 2016;2016:8390356. doi: 10.1155/2016/8390356. Epub 2016 Mar 30.

PubMed [citation]

PMID:: 27123465
PMCID:: PMC4829724

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.

Ameratunga R, Koopmans W, Woon ST, Leung E, Lehnert K, Slade CA, Tempany JC, Enders A, Steele R, Browett P, Hodgkin PD, Bryant VL.

Clin Transl Immunology. 2017 Oct;6(10):e159. doi: 10.1038/cti.2017.41.

PubMed [citation]

PMID:: 29114388
PMCID:: PMC5671988

See all PubMed Citations (34)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000966775.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (34)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	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		1	not provided	1	not provided

Last Updated: Sep 16, 2024

ClinVar

Relating variation to medicine