chr9:21970982:A>T Detail (hg38) (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	chr9:21,970,981-21,970,981 View the variant detail on this assembly version.
hg38	chr9:21,970,982-21,970,982

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.377T>A	NP_000068.1:p.Val126Asp
	NM_001195132.1:c.377T>A	NP_001182061.1:p.Val126Asp
	NM_058195.3:c.*21T>A
Ensemble	ENST00000304494.10:c.377T>A	ENST00000304494.10:p.Val126Asp
	ENST00000479692.2:c.224T>A	ENST00000479692.2:p.Val75Asp
	ENST00000494262.5:c.224T>A	ENST00000494262.5:p.Val75Asp
	ENST00000497750.1:c.224T>A	ENST00000497750.1:p.Val75Asp
	ENST00000498124.1:c.377T>A	ENST00000498124.1:p.Val126Asp
	ENST00000498628.6:c.224T>A	ENST00000498628.6:p.Val75Asp
	ENST00000530628.2:c.*21T>A
	ENST00000578845.2:c.224T>A	ENST00000578845.2:p.Val75Asp
	ENST00000579122.1:c.377T>A	ENST00000579122.1:p.Val126Asp
	ENST00000579755.2:c.*21T>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM3906636	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2008-05-01	no assertion criteria provided	Melanoma, cutaneous malignant, susceptibility to, 2	germline	Detail
Pathogenic	2022-02-14	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-11-22	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-28	criteria provided, multiple submitters, no conflicts	familial melanoma	germline	Detail
Pathogenic	2024-03-20	criteria provided, multiple submitters, no conflicts	Melanoma-pancreatic cancer syndrome	germline unknown	Detail
Pathogenic	2021-11-24	criteria provided, single submitter	melanoma and neural system tumor syndrome,Melanoma-pancreatic cancer syndrome,Melanoma, cutaneous malignant, susceptibility to, 2	unknown	Detail
Pathogenic	2021-11-24	criteria provided, single submitter	melanoma and neural system tumor syndrome,Melanoma-pancreatic cancer syndrome,Melanoma, cutaneous malignant, susceptibility to, 2	unknown	Detail
Pathogenic	2021-11-24	criteria provided, single submitter	melanoma and neural system tumor syndrome,Melanoma-pancreatic cancer syndrome,Melanoma, cutaneous malignant, susceptibility to, 2	unknown	Detail
Pathogenic	2023-08-25	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	We compared the gene expression profile of SFs from FM individuals with two dist...	BeFree	23371019	Detail
0.360	melanoma	A common founder for the V126D CDKN2A mutation in seven North American melanoma-...	BeFree	11506491	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND Melanoma, cutaneous malignant, susceptibility to, 2	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND not provided	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND Melanoma-pancreatic cancer syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND multiple conditions	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND multiple conditions	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND multiple conditions	ClinVar	Detail
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) AND Melanoma and neural system tumor syndrome	ClinVar	Detail
NA	DisGeNET	Detail
We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 muta...	DisGeNET	Detail
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.	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: rs104894098 dbSNP
Genome: hg38
Position: chr9:21,970,982-21,970,982
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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