chr9:21971018:GC>AG 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	chr9:21,971,018-21,971,019
hg38	chr9:21,971,019-21,971,020 View the variant detail on this assembly version.

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.339_340delinsCT	NP_000068.1:p.Pro114Ser
	NM_001195132.1:c.339_340delinsCT	NP_001182061.1:p.Pro114Ser
	NM_058195.3:c.382_383delinsCT	NP_478102.2:p.Ala128Leu
Ensemble	ENST00000304494.10:c.339_340delinsCT	ENST00000304494.10:p.Pro114Ser
	ENST00000479692.2:c.186_187delinsCT	ENST00000479692.2:p.Pro63Ser
	ENST00000494262.5:c.186_187delinsCT	ENST00000494262.5:p.Pro63Ser
	ENST00000497750.1:c.186_187delinsCT	ENST00000497750.1:p.Pro63Ser
	ENST00000498124.1:c.339_340delinsCT	ENST00000498124.1:p.Pro114Ser
	ENST00000498628.6:c.186_187delinsCT	ENST00000498628.6:p.Pro63Ser
	ENST00000530628.2:c.382_383delinsCT	ENST00000530628.2:p.Ala128Leu
	ENST00000578845.2:c.186_187delinsCT	ENST00000578845.2:p.Pro63Ser
	ENST00000579122.1:c.339_340delinsCT	ENST00000579122.1:p.Pro114Ser
	ENST00000579755.2:c.382_383delinsCT	ENST00000579755.2:p.Ala128Leu

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2007-08-01	no assertion criteria provided	Melanoma, cutaneous malignant, susceptibility to, 2	germline	Detail
Pathogenic	2014-05-15	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-02-24	criteria provided, single submitter	familial melanoma	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.284	melanoma	Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro...	BeFree	17492760	Detail
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) AND Melanoma, cutaneous malignant, susceptibilit...	ClinVar	Detail
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) AND Familial melanoma	ClinVar	Detail
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as ...	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: rs387906410 dbSNP
Genome: hg19
Position: chr9:21,971,018-21,971,019
Variant Type: snv
Reference Allele: GC
Alternative Allele: AG

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