NM_000455.4(STK11):c.734+1G>T

NM_000455.4(STK11):c.734+1G>T

Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
  • Chr19:1220718 (on Assembly GRCh38)
  • Chr19:1220717 (on Assembly GRCh37)
HGVS:
  • NG_007460.2:g.36312G>T
  • NM_000455.4:c.734+1G>T
  • NC_000019.10:g.1220718G>T (GRCh38)
  • LRG_319t1:c.734+1G>T
  • NC_000019.9:g.1220717G>T (GRCh37)
  • LRG_319:g.36312G>T
Links:
dbSNP: 587782018
NCBI 1000 Genomes Browser:
rs587782018
Molecular consequence:
NM_000455.4:c.734+1G>T: splice donor variant [Sequence Ontology SO:0001575]

Clinical significance

NM_000455.4(STK11):c.734+1G>T

Clinical significance:
Pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • Hereditary cancer-predisposing syndrome[MedGen]
See supporting ClinVar records

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Oct 14, 2013)
classified by single submitter
(clinical testing)
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germlineAmbry Genetics

(Feb 13, 2015)

SCV000185311

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

Ambry Genetics

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection method
not providednot providednot providedgermlinenot providednot providednot providedclinical testing

Last Updated: May 9, 2015