chr9:21970901:C>A Detail (hg19) (CDKN2A)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr9:21,970,901-21,970,901
hg38	chr9:21,970,902-21,970,902 View the variant detail on this assembly version.

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_058195.3:c.*101G>T
	NM_000077.4:c.457G>T	NP_000068.1:p.Asp153Tyr
	NM_001195132.1:c.457G>T	NP_001182061.1:p.Glu153Ter
Ensemble	ENST00000530628.2:c.*27+74G>T
	ENST00000578845.2:c.304G>T	ENST00000578845.2:p.Asp102Tyr
	ENST00000579122.1:c.383+74G>T
	ENST00000579755.2:c.*101G>T
	ENST00000498628.6:c.304G>T	ENST00000498628.6:p.Asp102Tyr
	ENST00000304494.10:c.457G>T	ENST00000304494.10:p.Asp153Tyr
	ENST00000479692.2:c.304G>T	ENST00000479692.2:p.Val102Phe
	ENST00000494262.5:c.304G>T	ENST00000494262.5:p.Asp102Tyr
	ENST00000497750.1:c.304G>T	ENST00000497750.1:p.Gly102Cys
	ENST00000498124.1:c.457G>T	ENST00000498124.1:p.Glu153Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

CDKN2A

Type	Database	ID	Link
Gene	MIM	600160	OMIM
	HGNC	1787	HGNC
	Ensembl	ENSG00000147889	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM13829	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-12-26	criteria provided, single submitter	familial melanoma	germline	Detail
Pathogenic	2022-09-12	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-04-20	criteria provided, multiple submitters, no conflicts	Melanoma-pancreatic cancer syndrome	unknown	Detail
Pathogenic	2022-09-11	criteria provided, single submitter	melanoma and neural system tumor syndrome	unknown	Detail
Pathogenic	2023-01-19	criteria provided, single submitter	not provided	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.145	Hereditary Melanoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) AND Melanoma-pancreatic cancer syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) AND Melanoma and neural system tumor syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) AND not provided	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: rs45476696 dbSNP
Genome: hg19
Position: chr9:21,970,901-21,970,901
Variant Type: snv
Reference Allele: C
Alternative Allele: A

Genome browser