NM_022095.3(ZNF335):c.3332G>A (p.Arg1111His)

NM_022095.3(ZNF335):c.3332G>A (p.Arg1111His)

Variant type:
single nucleotide variant
Cytogenetic location:
20q13.1
Genomic location:
  • Chr20:44579092 (on Assembly GRCh37)
  • Chr20:45950453 (on Assembly GRCh38)
Protein change:
R1111H
HGVS:
  • NG_029772.1:g.26742G>A
  • NM_022095.3:c.3332G>A
  • NC_000020.11:g.45950453C>T
  • NC_000020.10:g.44579092C>T
  • NP_071378.1:p.Arg1111His
Links:
NCBI 1000 Genomes Browser:
rs397514642
Molecular consequence:
NM_022095.3:c.3332G>A: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_022095.3(ZNF335):c.3332G>A (p.Arg1111His)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Feb 25, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Feb 25, 2013)
SCV000056956

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In affected members of an Arab Israeli family with autosomal recessive primary microcephaly-10 (MCPH10; 615095), Yang et al. (2012) identified a homozygous 3332G-A transition in exon 20 of the ZNF335 gene, predicted to result in an arg1111-to-his (R1111H) substitution at a conserved residue in the 13th zinc finger domain. The mutation occurs at the final position of the splice donor site, which disrupted normal splicing, resulting in an abnormally larger transcript including introns 19 and 20 and predicting premature termination. Patient cells showed severely reduced ZNF335 protein, but some residual transcript was identified. The mutation, which was identified by linkage analysis followed by candidate gene sequencing, was not found in 100 control individuals or in 2,700 control exomes.

Last Updated: Aug 5, 2014

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