chr9:21971122:GTGAGAGTGGCGGGGTCGG> Detail (hg19) (CDKN2A)

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

Genome

Assembly	Position
hg19	chr9:21,971,122-21,971,140
hg38	chr9:21,971,123-21,971,141

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_001195132.1:c.218_236delCCGACCCCGCCACTCTCAC	NP_001182061.1:p.Ala76CysfsTer64
	NM_058195.3:c.261_279delCCGACCCCGCCACTCTCAC	NP_478102.2:p.Arg90ValfsTer76
	NM_000077.4:c.218_236delCCGACCCCGCCACTCTCAC	NP_000068.1:p.Ala76CysfsTer64
Ensemble	ENST00000498124.1:c.218_236delCCGACCCCGCCACTCTCAC	ENST00000498124.1:p.Ala76CysfsTer64
	ENST00000578845.2:c.65_83delCCGACCCCGCCACTCTCAC	ENST00000578845.2:p.Ala25CysfsTer64
	ENST00000498628.6:c.65_83delCCGACCCCGCCACTCTCAC	ENST00000498628.6:p.Ala25CysfsTer64
	ENST00000579122.1:c.218_236delCCGACCCCGCCACTCTCAC	ENST00000579122.1:p.Ala76CysfsTer51
	ENST00000530628.2:c.261_279delCCGACCCCGCCACTCTCAC	ENST00000530628.2:p.Arg90ValfsTer58
	ENST00000579755.2:c.261_279delCCGACCCCGCCACTCTCAC	ENST00000579755.2:p.Arg90ValfsTer76
	ENST00000304494.10:c.218_236delCCGACCCCGCCACTCTCAC	ENST00000304494.10:p.Ala76CysfsTer64
	ENST00000479692.2:c.65_83delCCGACCCCGCCACTCTCAC	ENST00000479692.2:p.Ala25CysfsTer64
	ENST00000494262.5:c.65_83delCCGACCCCGCCACTCTCAC	ENST00000494262.5:p.Ala25CysfsTer64
	ENST00000497750.1:c.65_83delCCGACCCCGCCACTCTCAC	ENST00000497750.1:p.Ala25CysfsTer64

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM5608120	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	body of stomach	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		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	2022-02-21	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2020-09-08	criteria provided, single submitter	familial melanoma	germline	Detail
Pathogenic	2021-06-02	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-04-27	criteria provided, single submitter	Melanoma-pancreatic cancer syndrome	germline	Detail
Pathogenic	2021-04-21	criteria provided, single submitter	melanoma and neural system tumor syndrome	unknown	Detail
Pathogenic	2024-02-23	criteria provided, single submitter	CDKN2A-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.145	Hereditary Melanoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) AND not provided	ClinVar	Detail
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) AND Melanoma-pancreatic cancer syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) AND Melanoma and neural system tumor syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) AND CDKN2A-related disorder	ClinVar	Detail
NA	DisGeNET	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: rs730881674 dbSNP
Genome: hg19
Position: chr9:21,971,122-21,971,140
Variant Type: snv
Reference Allele: GTGAGAGTGGCGGGGTCGG
Alternative Allele: -

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