TNFRSF13B P251L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TNFRSF13B P251L

(TNFRSF13B Pro251Leu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr17:16842991: 11.6% (1250/10758) in EVS
  • A @ chr17:16783715: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 11.6% (1250/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr17:16842991

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr17:16842991

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr17:16842991

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr17:16842991

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr17:16842991

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr17:16842991

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr17:16842991

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr17:16842991

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr17:16783716

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr17:16783716

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr17:16783716

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr17:16783716

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr17:16783716

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr17:16783716

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr17:16783716

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr17:16783716

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr17:16783716

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr17:16783716

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr17:16783716

 

Other external references
 

    dbSNP
  • rs34562254
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.183 (benign)
    Web search results (11 hits -- see all)
  • Search on Chromosome 17 Centromere Reveals TNFRSF13B as a ...
    TNFRSF13B had 2 nonsense mutations and 2 nonsynonymous variants ... We thus used 4 SNPs (c-247G>T, IVS3+25C>A, P251L, and S277S) of TNFRSF13B to construct haplotypes. ...
    circ.ahajournals.org/cgi/content/full/113/16/2002
  • Clinical Immunology Quiz – Case 5
    Figure 2. Molecular analysis of TNFRSF13B gene, showing the presence ... TNFRSF13B, carrying the mutations V220A and P251L (fig. 2). Further analysis demonstrated ...
    www.mednet.gr/archives/2008-4/pdf/548.pdf
  • A.E. Germenis
    Rare diseases in Greece: Experience of a referral center M. Speletas, A.E. Germenis DEPARTMENT ... TNFRSF13B/TACI polymorphisms • B cell TACI expression was found significantly ...
    www.slideshare.net/elutaf/ae-germenis-1714377
  • "Antibody defects: phenotypes and genetics"
    Homozygous and heterozygous mutations in TNFRSF13B, encoding TACI, in CVID* 1. 2. 3. 4. 5 ... (P251L and. V220A are considered SNPs) • All all heterozygous: 3 ...
    clinimmsoc.org/meetings/.../charlotte_cunningham_rundles.pdf
  • Approach to Non HIV Immune Deficiency
    Homozygous and heterozygous mutations in the gene TNFRSF13B, ... P251L. NYC. Control 11512. 7. 1504. 0. 1540. 5. 1540. 4. 1540. 5. 1528. 33. 1514. 150. 1464. 29. 304. 0.71 ...
    clinimmsoc.org/meetings/2006/pid/presentations/...
  • Age-related changes in BAFF and APRIL profiles and ...
    We found a P251L substitution in the TACI gene in. patients with CVID ... Graeff A, et al: Mutations in TNFRSF13B encoding. TACI are associated with common variable ...
    spandidos-publications.com/serveFile/...
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... 191 VAR_015490 CK2 (0.618) ANXA3 P12429 P251L 250 VAR_013916 CDK (0.920) MAPK (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Immunobiology: Relevance of biallelic versus monoallelic ...
    TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin ... of TNFRSF13B were analyzed by direct sequencing, and TNFRSF13B exons ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2651012/?tool=pubmed
  • 89122 Clinical: Transmembrane Activator and CAML Interactor ...
    mutations, P251L and V220A, are considered to be rare. polymorphisms ... TNFRSF13B encoding TACI are associated with common. variable immunodeficiency in humans. ...
    mayomedicallaboratories.com/test-catalog/.../89122

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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