chr9:21971058:C>G 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	chr9:21,971,057-21,971,057 View the variant detail on this assembly version.
hg38	chr9:21,971,058-21,971,058

HGVS

CDKN2A

Type	Transcript	Protein
RefSeq	NM_000077.4:c.301G>C	NP_000068.1:p.Gly101Arg
	NM_001195132.1:c.301G>C	NP_001182061.1:p.Gly101Arg
	NM_058195.3:c.344G>C	NP_478102.2:p.Arg115Pro
Ensemble	ENST00000304494.10:c.301G>C	ENST00000304494.10:p.Gly101Arg
	ENST00000479692.2:c.148G>C	ENST00000479692.2:p.Gly50Arg
	ENST00000494262.5:c.148G>C	ENST00000494262.5:p.Gly50Arg
	ENST00000497750.1:c.148G>C	ENST00000497750.1:p.Gly50Arg
	ENST00000498124.1:c.301G>C	ENST00000498124.1:p.Gly101Arg
	ENST00000498628.6:c.148G>C	ENST00000498628.6:p.Gly50Arg
	ENST00000530628.2:c.344G>C	ENST00000530628.2:p.Arg115Pro
	ENST00000578845.2:c.148G>C	ENST00000578845.2:p.Gly50Arg
	ENST00000579122.1:c.301G>C	ENST00000579122.1:p.Gly101Arg
	ENST00000579755.2:c.344G>C	ENST00000579755.2:p.Arg115Pro

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	Uncertain significance
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
Uncertain significance	2023-07-25	criteria provided, single submitter	familial melanoma	germline	Detail
Uncertain significance	2023-09-01	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2016-01-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.284	melanoma	Cutaneous phenotype and MC1R variants as modifying factors for the development o...	BeFree	17397031	Detail
0.360	melanoma	A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone famil...	BeFree	10869234	Detail
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.145	Hereditary Melanoma	NA	CLINVAR		Detail
0.360	Melanoma-pancreatic cancer syndrome	NA	CLINVAR		Detail
0.360	melanoma	Cutaneous phenotype and MC1R variants as modifying factors for the development o...	BeFree	17397031	Detail
0.360	melanoma	High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene i...	BeFree	11807902	Detail
0.360	melanoma	We investigated the frequency of the MC1R variants in the Italian region of Ligu...	BeFree	15221796	Detail
0.007	Dysplastic Nevus	Among patients with melanoma genetically tested, CDKN2A G101W mutation carriers ...	BeFree	23711066	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) AND Familial melanoma	ClinVar	Detail
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) AND not provided	ClinVar	Detail
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A...	DisGeNET	Detail
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A...	DisGeNET	Detail
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian maligna...	DisGeNET	Detail
We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occur...	DisGeNET	Detail
Among patients with melanoma genetically tested, CDKN2A G101W mutation carriers were more frequently...	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: rs104894094 dbSNP
Genome: hg38
Position: chr9:21,971,058-21,971,058
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Homozygous Counts in All Race (ExAC): 0
East Asian Chromosome Counts (ExAC): 8148
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): 110970
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Allele Frequency in All Race (ExAC): 1.802288906911778E-5

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