NM_000455.4(STK11):c.921-1G>T

Variation ID: Help
93100
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 1, 2012
Number of submission(s):
1
Condition(s):
Peutz-Jeghers syndrome[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000455.4(STK11):c.921-1G>T

Allele ID:
99007
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
  • Chr19: 1222984 (on Assembly GRCh38)
  • Chr19: 1222983 (on Assembly GRCh37)
HGVS:
  • NG_007460.2:g.38578G>T
  • NM_000455.4:c.921-1G>T
  • NC_000019.10:g.1222984G>T (GRCh38)
  • LRG_319t1:c.921-1G>T
  • NC_000019.9:g.1222983G>T (GRCh37)
  • LRG_319:g.38578G>T
Links:
dbSNP: 398123406
NCBI 1000 Genomes Browser:
rs398123406
Molecular consequence:
NM_000455.4:c.921-1G>T: splice acceptor variant [Sequence Ontology SO:0001574]

Variant frequency in dbGaP Help

NM_000455.4(STK11):c.921-1G>T

GRCh37 Chr19:1222983
Called variantsPotential variants
Sample countno data0 of 28041

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Nov 1, 2012)
criteria provided, single submitter
(EGL Classification Definitions)
clinical testinggermlineEmory Genetics Laboratory,Emory UniversitySCV000110775.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Emory Genetics Laboratory,Emory Universitynot provided1germlinenot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 13, 2016