chr12:68839435:A>G Detail (hg38) (MDM2)

Information

Genome

Assembly Position
hg19 chr12:69,233,215-69,233,215 View the variant detail on this assembly version.
hg38 chr12:68,839,435-68,839,435

HGVS

Type Transcript Protein
RefSeq NM_001145339.2:c.915A>G NP_001138811.1:p.Glu305=
NM_002392.5:c.1080A>G NP_002383.2:p.Glu360=
Ensemble ENST00000258148.11:c.915A>G ENST00000258148.11:p.Glu305=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.015
ToMMo:0.015
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.017

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 164785 OMIM
HGNC 6973 HGNC
Ensembl ENSG00000135679 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46318628 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, single submitter Accelerated tumor formation, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.059 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
<0.001 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.022 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
<0.001 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.008 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.021 breast carcinoma We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
0.019 Malignant neoplasm of breast We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs229738... BeFree 23755158 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002392.6(MDM2):c.1080A>G (p.Glu360=) AND Accelerated tumor formation, susceptibility to ClinVar Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... DisGeNET Detail
We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 an... 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
rs769412 dbSNP
Genome
hg38
Position
chr12:68,839,435-68,839,435
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1203
Mean of sample read depth (HGVD)
61.79
Standard deviation of sample read depth (HGVD)
36.32
Number of reference allele (HGVD)
2370
Number of alternative allele (HGVD)
36
Allele Frequency (HGVD)
0.014962593516209476
Gene Symbol (HGVD)
MDM2
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))
rs769412
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0152
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
254
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
143
East Asian Heterozygous Counts (ExAC)
143
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.016585479007190908
Chromosome Counts in All Race (ExAC)
120690
Allele Counts in All Race (ExAC)
6925
Heterozygous Counts in All Race (ExAC)
6433
Homozygous Counts in All Race (ExAC)
246
Allele Frequency in All Race (ExAC)
0.057378407490264315
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