chr19:1221996:C>T Detail (hg38) (STK11)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr19:1,221,995-1,221,995 View the variant detail on this assembly version.
hg38	chr19:1,221,996-1,221,996

HGVS

STK11

Type	Transcript	Protein
RefSeq	NM_000455.4:c.910C>T	NP_000446.1:p.Arg304Trp
Ensemble	ENST00000326873.12:c.910C>T	ENST00000326873.12:p.Arg304Trp
	ENST00000585465.3:c.910C>T	ENST00000585465.3:p.Arg304Trp
	ENST00000652231.1:c.910C>T	ENST00000652231.1:p.Arg304Trp
	ENST00000714322.1:c.868C>T	ENST00000714322.1:p.Arg290Trp
	ENST00000714323.1:c.910C>T	ENST00000714323.1:p.Arg304Trp

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

STK11

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
	COSMIC	COSM29468	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2021/10/05	small intestine, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/10/05	pancreas, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/10/05	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/10/05	breast, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-05-03	criteria provided, single submitter	not provided	germline unknown	Detail
Pathogenic Likely pathogenic	2024-02-12	criteria provided, multiple submitters, no conflicts	Peutz-Jeghers syndrome	germline somatic unknown	Detail
Pathogenic	2023-07-07	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) AND not provided	ClinVar	Detail
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) AND Peutz-Jeghers syndrome	ClinVar	Detail
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	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: rs786201090 dbSNP
Genome: hg38
Position: chr19:1,221,996-1,221,996
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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