chr9:21971017:G>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	chr9:21,971,017-21,971,017
hg38	chr9:21,971,018-21,971,018 View the variant detail on this assembly version.

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_001195132.1:c.341C>T	NP_001182061.1:p.Pro114Leu
	NM_058195.3:c.384C>T	NP_478102.2:p.Ala128=
	NM_000077.4:c.341C>T	NP_000068.1:p.Pro114Leu
Ensemble	ENST00000498124.1:c.341C>T	ENST00000498124.1:p.Pro114Leu
	ENST00000497750.1:c.188C>T	ENST00000497750.1:p.Pro63Leu
	ENST00000579122.1:c.341C>T	ENST00000579122.1:p.Pro114Leu
	ENST00000498628.6:c.188C>T	ENST00000498628.6:p.Pro63Leu
	ENST00000530628.2:c.384C>T	ENST00000530628.2:p.Ala128=
	ENST00000579755.2:c.384C>T	ENST00000579755.2:p.Ala128=
	ENST00000578845.2:c.188C>T	ENST00000578845.2:p.Pro63Leu
	ENST00000494262.5:c.188C>T	ENST00000494262.5:p.Pro63Leu
	ENST00000304494.10:c.341C>T	ENST00000304494.10:p.Pro114Leu
	ENST00000479692.2:c.188C>T	ENST00000479692.2:p.Pro63Leu

Summary

MGeND

Clinical significance	not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM3092257	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		Melanoma	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Pathogenic	2020-03-19	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2021-01-08	criteria provided, conflicting interpretations	familial melanoma	germline	Detail
Pathogenic		no assertion criteria provided	Malignant tumor of urinary bladder	somatic	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Malignant melanoma of skin	ClinVar	Detail
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Squamous cell carcinoma of the skin	ClinVar	Detail
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) AND Malignant tumor of urinary bladder	ClinVar	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: rs121913386 dbSNP
Genome: hg19
Position: chr9:21,971,017-21,971,017
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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