TSPYL1, 1-BP INS, 457G

TSPYL1, 1-BP INS, 457G

Variant type:
Insertion
Cytogenetic location:
6q22-q23
Other names:
  • 1-BP INS, 457G
Links:
OMIM: 604714.0001

Clinical significance

TSPYL1, 1-BP INS, 457G

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

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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
(Nov 11, 2005)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000025898

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In affected infants with SIDDT (608800) from the Belleville Old Order Amish community, Puffenberger et al. (2004) identified homozygosity for a 1-bp insertion (457G) in the TSPYL1 gene. All parents were heterozygous for the mutation. The mutation results in truncation of the protein at codon 169 and leads to loss of a peptide domain with strong homology to the nucleosome assembly protein family. Expression studies showed loss of nuclear localization of the truncated protein, suggesting loss of a nuclear localization patch in addition to loss of the nucleosome assembly domain.

Last Updated: Jan 1, 2015

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