DYNC2H1 Q304L - GET-Evidence

Curation:
Currentness:

DYNC2H1 Q304L

(DYNC2H1 Gln304Leu)


Short summary

Presumed benign.

Variant evidence
Computational -1

Polyphen 2 predicts “probably damaging”, BLOSUM100 score predicts Gln to Leu substitution is disruptive.

Functional -
Case/Control 2

Allele frequency contradicts any highly penetrant severe effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

Other mutations in this gene are reported to cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome in a recessive manner (when homozygous or compound heterozygous). http://www.ncbi.nlm.nih.gov/pubmed/19442771 The high allele frequency of this variant (4 out of 63 PGP + public genomes on GET-Evidence) contradicts it as having this rare pathogenic effect, and so it is presumed benign.

Allele frequency

  • T @ chr11:102988504: 4.8% (473/9770) in EVS
  • T @ chr11:102493713: 3.2% (4/126) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (473/9770)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr11:102988504

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr11:102988504

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr11:102493714

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr11:102493714

 

Other external references
 

    dbSNP
  • rs12146610
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.854 (probably damaging)
    Web search results (3 hits -- see all)
  • DYNC2H1 Gene - GeneCards | DYHC2 Protein | DYHC2 Antibody
    DYNC2H1 Gene in genomic location: bands according to Ensembl, ... for DYNC2H1 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=DYNC2H1
  • Cytoplasmic dynein 2 heavy chain 1 - Homo sapiens (Human)
    DYNC2H1. Synonyms: DHC1B, DHC2, DNCH2, DYH1B, KIAA1997. Organism. Homo ... probably composed by an heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 ...
    www.uniprot.org/uniprot/Q8NCM8
  • UniProt: DYHC2_HUMAN
    AC Q8NCM8; O00432; Q16693; Q3C1U8; Q4AC93; Q6ZMX7; Q6ZUM6; Q7Z363; AC Q8N977; Q92815; ... DYNC2H1 homodimer and a number of DYNC2LI1 light CC intermediate ...
    www.genome.jp/dbget-bin/www_bget?uniprot:DYHC2_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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