SACS V3369A - 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:

SACS V3369A

(SACS Val3369Ala)


Short summary

 

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.04);
PolyPhen=possibly_damaging(0.464);
Condel=deleterious(0.725)
Mutation Tasting Prediction: Polymorphism p value: 0.886002; no protein features affected.
GVGD: GV 0.00; GD 65.28; Class C65
Multi-alignment of Q9NZJ4.2 sacsin [Homo sapiens] with: XP_002824122.1 [Pongo abelii] XP_001174272.2 [Pan troglodytes] XP_002920712.1 [Ailuropoda melanoleuca] EFB22146.1 [Ailuropoda melanoleuca] XP_534533.2 [Canis familiaris] XP_001490776.2 [Equus caballus] Q9JLC8.2 Short=DNAJC29 XP_001063390.2 [Rattus norvegicus] XP_586753.2 [Bos taurus] XP_001519222.1 [Ornithorhynchus anatinus]

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 @ chr13:23907909: 20.4% (2197/10756) in EVS
  • G @ chr13:22805908: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 20.4% (2197/10756)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr13:23907909

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr13:23907909

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr13:23907909

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom G @ chr13:23907909

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr13:23907909

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr13:23907909

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr13:23907909

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr13:23907909

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr13:23907909

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr13:23907909

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr13:23907909

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom G @ chr13:23907909

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr13:23907909

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr13:23907909

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr13:23907909

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr13:23907909

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr13:23907909

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr13:23907909

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr13:23907909

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr13:23907909

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom G @ chr13:23907909

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr13:23907909

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr13:23907909

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr13:22805909

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr13:22805909

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr13:22805909

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr13:22805909

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr13:22805909

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr13:22805909

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr13:22805909

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr13:22805909

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr13:22805909

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr13:22805909

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr13:22805909

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr13:22805909

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr13:22805909

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr13:22805909

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr13:22805909

 

Other external references
 

    dbSNP
  • rs17078605
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.769 (possibly damaging)
    Web search results (0 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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