chr19:1220591:C>T Detail (hg38) (STK11)

Information

Genome

Assembly Position
hg19 chr19:1,220,590-1,220,590 View the variant detail on this assembly version.
hg38 chr19:1,220,591-1,220,591

HGVS

Type Transcript Protein
RefSeq NM_000455.4:c.608C>T NP_000446.1:p.Pro203Leu
Ensemble ENST00000326873.12:c.608C>T ENST00000326873.12:p.Pro203Leu
ENST00000585465.3:c.608C>T ENST00000585465.3:p.Pro203Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 602216 OMIM
HGNC 11389 HGNC
Ensembl ENSG00000118046 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv60746609 TogoVar
COSMIC COSM3692365 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-03-31 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-05-16 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts Peutz-Jeghers syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000455.5(STK11):c.608C>T (p.Pro203Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000455.5(STK11):c.608C>T (p.Pro203Leu) AND not provided ClinVar Detail
NM_000455.5(STK11):c.608C>T (p.Pro203Leu) AND Peutz-Jeghers syndrome ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587782379 dbSNP
Genome
hg38
Position
chr19:1,220,591-1,220,591
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs587782379
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
3010
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
46702
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.564943685495268E-5
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