SP110 M523T - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

SP110 M523T

(SP110 Met523Thr)


Short summary

 

Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.41);
PolyPhen=benign(0);
Condel=deleterious(0.600)
Mutation Tasting Prediction: Polymorphism p value: 0.999929; protein features (might be) affected (Detail: aa 454-535 DOMAIN SAND gets lost)
GVGD: GV 118.51; GD 0.00; Class C0
Multi-alignment of Q9HB58.5 SP110 nuclear body protein, isoform CRA_d [Homo sapiens] with: XP_003274773.1 [Nomascus leucogenys] XP_001140830.2 [Pan troglodytes] XP_002749974.1 [Callithrix jacchus] XP_001915663.1 [Equus caballus] XP_001788173.1 [Bos taurus]

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

  • G @ chr2:231042276: 41.5% (4462/10758) in EVS
  • G @ chr2:230750519: 38.3% (49/128) in GET-Evidence
  • Frequency shown in summary reports: 41.5% (4462/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom G @ chr2:231042276

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr2:231042276

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr2:231042276

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr2:231042276

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr2:231042276

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr2:231042276

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr2:231042276

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr2:231042276

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr2:231042276

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr2:231042276

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr2:231042276

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr2:231042276

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom G @ chr2:231042276

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr2:231042276

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr2:231042276

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom G @ chr2:231042276

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr2:231042276

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr2:231042276

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr2:231042276

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom G @ chr2:231042276

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr2:231042276

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr2:231042276

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr2:231042276

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr2:231042276

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr2:230750520

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr2:230750520

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr2:230750520

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr2:230750520

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr2:230750520

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr2:230750520

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr2:230750520

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr2:230750520

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr2:230750520

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr2:230750520

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr2:230750520

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr2:230750520

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr2:230750520

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr2:230750520

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr2:230750520

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr2:230750520

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr2:230750520

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr2:230750520

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr2:230750520

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr2:230750520

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr2:230750520

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr2:230750520

 

Other external references
 

    dbSNP
  • rs1135791
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SP110 gene
    Hepatic Veno-occlusive Disease with Immunodeficiency
    Charcot-Marie-Tooth Neuropathy Type 1
    Charcot-Marie-Tooth Neuropathy Type 1A
    Charcot-Marie-Tooth Neuropathy Type 1E
    Hereditary Neuropathy with Liability to Pressure Palsies
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SP110
    Web search results (5 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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