RNF43 L418M - 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:

RNF43 L418M

(RNF43 Leu418Met)


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

  • T @ chr17:56435885: 37.1% (3995/10758) in EVS
  • T @ chr17:53790883: 38.9% (49/126) in GET-Evidence
  • Frequency shown in summary reports: 37.1% (3995/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr17:56435885

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr17:56435885

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr17:56435885

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr17:56435885

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr17:56435885

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr17:56435885

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr17:56435885

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr17:56435885

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr17:56435885

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr17:56435885

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom T @ chr17:56435885

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr17:56435885

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr17:56435885

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr17:56435885

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr17:56435885

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr17:56435885

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr17:56435885

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr17:56435885

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr17:56435885

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr17:53790884

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr17:53790884

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr17:53790884

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr17:53790884

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr17:53790884

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr17:53790884

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr17:53790884

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr17:53790884

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr17:53790884

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr17:53790884

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr17:53790884

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr17:53790884

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr17:53790884

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr17:53790884

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr17:53790884

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr17:53790884

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr17:53790884

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr17:53790884

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr17:53790884

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr17:53790884

 

GS19701 - var-GS19701-1100-36-ASM
hom T @ chr17:53790884

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr17:53790884

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr17:53790884

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr17:53790884

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr17:53790884

 

NA12878

 

Other external references
 

    dbSNP
  • rs2526374
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.06 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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