MLL2 V1432Shift - GET-Evidence

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MLL2 V1432Shift

(MLL2 1432delVinsShift)

Short summary

Nonsense or frameshift alleles of this gene are associated with the autosomal dominant disease Kabuki syndrome. As PGP89 is not affected, this is likely a sequencing error.

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

  • None available.


Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15. PubMed PMID: 20711175; PubMed Central PMCID: PMC2930028.

Exome sequencing identifies nonsense or frameshift alleles in MLL2 associated with the autosomal dominant disease Kabuki syndrome. The majority of the cases identified carry de novo alleles (12/14).


hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het CTCACACCTCA @ chr12:49440517

PGP89 is scored as heterozygous for MLL2-V1432Shift but does not show symptoms of Kabuki syndrome. Frameshift alleles with lesions downstream of V1432 show the dominant phenotype (PMID: 20711175), so it is likely that this is a sequencing error.

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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