MLH3 V420I - GET-Evidence

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

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MLH3 V420I

(MLH3 Val420Ile)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



Other external references

  • 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 ...
  • 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 ...
  • 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. ...
    ... DNA mismatch repair RT gene MLH3: evidence for somatic mutation in ... CC -!- DISEASE: Defects in MLH3 are the cause of hereditary non-polyposis CC ...
  • .:: 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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