chr12:57751596:T>C Detail (hg38) (CDK4, LOC130008148)

Information

Genome

Assembly Position
hg19 chr12:58,145,379-58,145,379 View the variant detail on this assembly version.
hg38 chr12:57,751,596-57,751,596

HGVS

Type Transcript Protein
RefSeq NM_000075.3:c.122A>G NP_000066.1:p.Asn41Ser
Ensemble ENST00000257904.11:c.122A>G ENST00000257904.11:p.Asn41Ser
ENST00000312990.10:c.122A>G ENST00000312990.10:p.Asn41Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
Type Database ID Link
Gene MIM 123829 OMIM
HGNC 1773 HGNC
Ensembl ENSG00000135446 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46085226 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-31 criteria provided, single submitter familial melanoma germline Detail
Conflicting interpretations of pathogenicity 2023-04-10 criteria provided, conflicting interpretations not specified germline Detail
Likely benign 2018-08-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-11-19 criteria provided, conflicting interpretations not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2023-11-07 criteria provided, conflicting interpretations Melanoma, cutaneous malignant, susceptibility to, 3 germline unknown Detail
Likely benign 2023-03-18 criteria provided, single submitter CDK4-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND Familial melanoma ClinVar Detail
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND not specified ClinVar Detail
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND not provided ClinVar Detail
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Detail
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND CDK4-related disorder 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
rs144890720 dbSNP
Genome
hg38
Position
chr12:57,751,596-57,751,596
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs144890720
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
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)
121396
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6475007413753337E-4
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