chr9:21971153:T>C 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	chr9:21,971,152-21,971,152 View the variant detail on this assembly version.
hg38	chr9:21,971,153-21,971,153

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.206A>G	NP_000068.1:p.Glu69Gly
	NM_001195132.1:c.206A>G	NP_001182061.1:p.Glu69Gly
	NM_058195.3:c.249A>G	NP_478102.2:p.Gly83=
Ensemble	ENST00000304494.10:c.206A>G	ENST00000304494.10:p.Glu69Gly
	ENST00000479692.2:c.53A>G	ENST00000479692.2:p.Glu18Gly
	ENST00000494262.5:c.53A>G	ENST00000494262.5:p.Glu18Gly
	ENST00000497750.1:c.53A>G	ENST00000497750.1:p.Glu18Gly
	ENST00000498124.1:c.206A>G	ENST00000498124.1:p.Glu69Gly
	ENST00000498628.6:c.53A>G	ENST00000498628.6:p.Glu18Gly
	ENST00000530628.2:c.249A>G	ENST00000530628.2:p.Gly83=
	ENST00000578845.2:c.53A>G	ENST00000578845.2:p.Glu18Gly
	ENST00000579122.1:c.206A>G	ENST00000579122.1:p.Glu69Gly
	ENST00000579755.2:c.249A>G	ENST00000579755.2:p.Gly83=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-11-22	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-01-29	criteria provided, single submitter	familial melanoma	germline	Detail
Uncertain significance	2023-02-21	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-10-30	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

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) AND not provided	ClinVar	Detail
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) AND Melanoma and neural system tumor syndrome	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: rs372670098 dbSNP
Genome: hg38
Position: chr9:21,971,153-21,971,153
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 6012
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 81626
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.2250998456374194E-5

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