NM_000455.4(STK11):c.574delA (p.Ile192Serfs)

Variation ID: Help
141581
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 29, 2014
Number of submission(s):
1
Condition(s):
Hereditary cancer-predisposing syndrome[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_000455.4(STK11):c.574delA (p.Ile192Serfs)

Allele ID:
151295
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
  • Chr19: 1220482 (on Assembly GRCh38)
  • Chr19: 1220481 (on Assembly GRCh37)
HGVS:
  • NG_007460.2:g.36076delA
  • NM_000455.4:c.574delA
  • NP_000446.1:p.Ile192Serfs
  • NC_000019.10:g.1220482delA (GRCh38)
  • LRG_319t1:c.574delA
  • NC_000019.9:g.1220481delA (GRCh37)
  • LRG_319p1:p.Ile192Serfs
  • LRG_319:g.36076delA
Links:
dbSNP: 587781856
NCBI 1000 Genomes Browser:
rs587781856
Molecular consequence:
NM_000455.4:c.574delA: frameshift variant [Sequence Ontology SO:0001589]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 29, 2014)
criteria provided, single submitter
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germline
    Ambry GeneticsSCV000185000.3
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Feb 14, 2017