MLH3 V420I - 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:

MLH3 V420I

(MLH3 Val420Ile)


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 @ chr14:75515101: 1.0% (104/10758) in EVS
  • T @ chr14:74584853: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.0% (104/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0 (benign)
    Web search results (6 hits -- see all)
  • MLH3 Gene - GeneCards | MLH3 Protein | MLH3 Antibody
    EntrezGene summary for MLH3: This gene is a member of the MutL ... MLH3 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=MLH3
  • DNA mismatch repair protein Mlh3 - Homo sapiens (Human)
    Defects in MLH3 are the cause of hereditary non-polyposis colorectal cancer type 7 ... Defects in MLH3 are a cause of colorectal cancer (CRC) [MIM:114500]. Sequence ...
    www.uniprot.org/uniprot/Q9UHC1
  • MLH3 Mutation in Endometrial Cancer -- Taylor et al. 66 (15 ...
    Missense changes in MLH3. Amino acid change. SIFT prediction. SIFT score ... V420I. Tolerant. 0.51. 3/57 (5.3%) MSS, MSI-H M, MSI-H U. Heinonen et al. ...
    cancerres.aacrjournals.org/cgi/content/full/66/15/7502/TBL4
  • UniProt/SWISS-PROT: MLH3_HUMAN
    ... DNA mismatch repair RT gene MLH3: evidence for somatic mutation in ... CC -!- DISEASE: Defects in MLH3 are the cause of hereditary non-polyposis CC ...
    www.genome.jp/dbget-bin/www_bget?sp:MLH3_HUMAN
  • .:: repairsnps ::.
    Gene: MLH3. Name: mutL homolog 3 (E. coli) Category: Mismatch excision ... rs28756982. NP_055196. G>A. V>I. aa-position:420 [ SNP analysis ] 13. rs28756981. NP_055196. A>C ...
    dna.uio.no/repairSNP/getsnps.php?gene=MLH3

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in