chr9:21971036:C>A 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	chr9:21,971,036-21,971,036
hg38	chr9:21,971,037-21,971,037 View the variant detail on this assembly version.

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.322G>T	NP_000068.1:p.Asp108Tyr
	NM_001195132.1:c.322G>T	NP_001182061.1:p.Asp108Tyr
	NM_058195.3:c.365G>T	NP_478102.2:p.Arg122Leu
Ensemble	ENST00000578845.2:c.169G>T	ENST00000578845.2:p.Asp57Tyr
	ENST00000498628.6:c.169G>T	ENST00000498628.6:p.Asp57Tyr
	ENST00000304494.10:c.322G>T	ENST00000304494.10:p.Asp108Tyr
	ENST00000479692.2:c.169G>T	ENST00000479692.2:p.Asp57Tyr
	ENST00000494262.5:c.169G>T	ENST00000494262.5:p.Asp57Tyr
	ENST00000497750.1:c.169G>T	ENST00000497750.1:p.Asp57Tyr
	ENST00000498124.1:c.322G>T	ENST00000498124.1:p.Asp108Tyr
	ENST00000579122.1:c.322G>T	ENST00000579122.1:p.Asp108Tyr
	ENST00000579755.2:c.365G>T	ENST00000579755.2:p.Arg122Leu
	ENST00000530628.2:c.365G>T	ENST00000530628.2:p.Arg122Leu

Summary

MGeND

Clinical significance	not provided
Variant entry	16
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM1674414	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		ill-defined sites within the digestive system	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		Tumors of unknown primary site	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
not provided		head of pancreas	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		ill-defined sites within the digestive system	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
Likely pathogenic	2023-12-07	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Neoplasm	somatic	Detail
Uncertain significance	2020-04-09	criteria provided, single submitter	familial melanoma	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) AND Neoplasm	ClinVar	Detail
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) AND Familial melanoma	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: rs121913381 dbSNP
Genome: hg19
Position: chr9:21,971,036-21,971,036
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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