TG R1999W - 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:

TG R1999W

(TG Arg1999Trp)


Short summary

 

Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ): SIFT=deleterious(0.03);
PolyPhen=benign(0.004);
Condel=deleterious(0.917)
Mutation Tasting Prediction: Polymorphism p value: 0.999333; protein features (might be) affected (Detail: aa 1996-2129 REPEAT Type IIIB gets lost)
GVGD: GV 101.88; GD 46.61; Class C0
Multi-alignment of P01266.5 thyroglobulin precursor [Homo sapiens] with: XP_003255990.1 [Nomascus leucogenys] XP_001916622.1 [Equus caballus] XP_002917659.1 [Ailuropoda melanoleuca] XP_002917658.1 [Ailuropoda melanoleuca] NP_001041569.1 [Canis lupus familiaris] NP_776308.1 [Bos taurus] EFB24875.1 [Ailuropoda melanoleuca] NP_033401.2 [Mus musculus] O08710.2 RecName: Full=Thyroglobulin; Short=Tg; Flags: Precursor EDL29375.1 [Mus musculus]

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

  • T @ chr8:133984058: 39.5% (4247/10758) in EVS
  • T @ chr8:134053239: 39.8% (51/128) in GET-Evidence
  • Frequency shown in summary reports: 39.5% (4247/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr8:133984058

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr8:133984058

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr8:133984058

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr8:133984058

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr8:133984058

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr8:133984058

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr8:133984058

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr8:133984058

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr8:133984058

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr8:133984058

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr8:133984058

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr8:133984058

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr8:133984058

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr8:133984058

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr8:133984058

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr8:133984058

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr8:133984058

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr8:133984058

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr8:133984058

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr8:134053240

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr8:134053240

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr8:134053240

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr8:134053240

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr8:134053240

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr8:134053240

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr8:134053240

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr8:134053240

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr8:134053240

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr8:134053240

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr8:134053240

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr8:134053240

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr8:134053240

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr8:134053240

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr8:134053240

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr8:134053240

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr8:134053240

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr8:134053240

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr8:134053240

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr8:134053240

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr8:134053240

 

GS19703 - var-GS19703-1100-36-ASM
hom T @ chr8:134053240

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr8:134053240

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr8:134053240

 

GS20509 - var-GS20509-1100-36-ASM
hom T @ chr8:134053240

 

NA12878

 

Other external references
 

    dbSNP
  • rs2076740
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (6 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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