chr9:21971199:C>T 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	chr9:21,971,199-21,971,199
hg38	chr9:21,971,200-21,971,200 View the variant detail on this assembly version.

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_058195.3:c.202G>A	NP_478102.2:p.Asp68Asn
	NM_001195132.1:c.159G>A	NP_001182061.1:p.Met53Ile
	NM_000077.4:c.159G>A	NP_000068.1:p.Met53Ile
Ensemble	ENST00000579755.2:c.202G>A	ENST00000579755.2:p.Asp68Asn
	ENST00000498628.6:c.6G>A	ENST00000498628.6:p.Met2Ile
	ENST00000578845.2:c.6G>A	ENST00000578845.2:p.Met2Ile
	ENST00000494262.5:c.6G>A	ENST00000494262.5:p.Met2Ile
	ENST00000530628.2:c.202G>A	ENST00000530628.2:p.Asp68Asn
	ENST00000498124.1:c.159G>A	ENST00000498124.1:p.Met53Ile
	ENST00000497750.1:c.6G>A	ENST00000497750.1:p.Met2Ile
	ENST00000479692.2:c.6G>A	ENST00000479692.2:p.Met2Ile
	ENST00000579122.1:c.159G>A	ENST00000579122.1:p.Met53Ile
	ENST00000304494.10:c.159G>A	ENST00000304494.10:p.Met53Ile

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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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	COSM5517394	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		middle third of oesophagus	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	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	2023-11-27	criteria provided, single submitter	familial melanoma	germline	Detail
Pathogenic Likely pathogenic	2023-09-25	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2022-04-20	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-03-22	criteria provided, single submitter	melanoma and neural system tumor syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.360	melanoma	The previously described Met53Ile CDKN2A mutation located in exon 2 was detected...	BeFree	12459645	Detail
0.360	melanoma	The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma ...	BeFree	17171691	Detail
0.002	Metastatic melanoma	The previously described Met53Ile CDKN2A mutation located in exon 2 was detected...	BeFree	12459645	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) AND not provided	ClinVar	Detail
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) AND Melanoma and neural system tumor syndrome	ClinVar	Detail
NA	DisGeNET	Detail
The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient...	DisGeNET	Detail
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scotti...	DisGeNET	Detail
The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient...	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: rs104894095 dbSNP
Genome: hg19
Position: chr9:21,971,199-21,971,199
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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