chr11:69648142:G>A Detail (hg38) (CCND1)

Information

Genome

Assembly Position
hg19 chr11:69,462,910-69,462,910 View the variant detail on this assembly version.
hg38 chr11:69,648,142-69,648,142

HGVS

Type Transcript Protein
RefSeq NM_053056.2:c.723G>A NP_444284.1:p.Pro241=
Ensemble ENST00000227507.3:c.723G>A ENST00000227507.3:p.Pro241=
ENST00000536559.1:c.*143G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.481
ToMMo:0.486
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.569

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 168461 OMIM
HGNC 1582 HGNC
Ensembl ENSG00000110092 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43059654 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2013-05-01 no assertion criteria provided Colorectal cancer, susceptibility to germline Detail
risk factor 2013-05-01 no assertion criteria provided VON HIPPEL-LINDAU SYNDROME, MODIFIER OF germline Detail
Benign 2020-04-16 criteria provided, single submitter not provided germline Detail
risk factor 2013-05-01 no assertion criteria provided MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO germline Detail
Benign 2019-10-17 criteria provided, single submitter CCND1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Early-Stage Breast Carcinoma In this study, we investigated the influence of the functional polymorphisms VEG... BeFree 23625573 Detail
0.009 Malignant tumor of colon The cyclin D1 (CCND1) rs9344 G&gt;A polymorphism predicts clinical outcome in co... BeFree 23567490 Detail
0.011 cervix carcinoma CCND1 rs9344 polymorphisms are associated with the genetic susceptibility to cer... BeFree 21594903 Detail
0.006 Malignant tumor of cervix CCND1 rs9344 polymorphisms are associated with the genetic susceptibility to cer... BeFree 21594903 Detail
0.024 Malignant neoplasm of lung These findings support the conclusion that cell cycle regulation may play a role... BeFree 21965784 Detail
0.046 Carcinogenesis Cell cycle regulation may play a role in oral carcinogenesis and CCND1 rs9344 po... BeFree 21273603 Detail
0.012 Carcinoma of lung These findings support the conclusion that cell cycle regulation may play a role... BeFree 21965784 Detail
0.068 colorectal cancer [The association of cyclin D1 G870A and E-cadherin C-160A polymorphisms with the... GAD 18196581 Detail
0.010 colon carcinoma The cyclin D1 (CCND1) rs9344 G&gt;A polymorphism predicts clinical outcome in co... BeFree 23567490 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND Colorectal cancer, susceptibility to ClinVar Detail
NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar Detail
NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND not provided ClinVar Detail
NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO ClinVar Detail
NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND CCND1-related disorder ClinVar Detail
In this study, we investigated the influence of the functional polymorphisms VEGF-A rs3025039 C &gt;... DisGeNET Detail
The cyclin D1 (CCND1) rs9344 G&gt;A polymorphism predicts clinical outcome in colon cancer patients ... DisGeNET Detail
CCND1 rs9344 polymorphisms are associated with the genetic susceptibility to cervical cancer in Chin... DisGeNET Detail
CCND1 rs9344 polymorphisms are associated with the genetic susceptibility to cervical cancer in Chin... DisGeNET Detail
These findings support the conclusion that cell cycle regulation may play a role in lung cancer deve... DisGeNET Detail
Cell cycle regulation may play a role in oral carcinogenesis and CCND1 rs9344 polymorphism maybe a u... DisGeNET Detail
These findings support the conclusion that cell cycle regulation may play a role in lung cancer deve... DisGeNET Detail
[The association of cyclin D1 G870A and E-cadherin C-160A polymorphisms with the risk of colorectal ... DisGeNET Detail
The cyclin D1 (CCND1) rs9344 G&gt;A polymorphism predicts clinical outcome in colon cancer patients ... 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
rs9344 dbSNP
Genome
hg38
Position
chr11:69,648,142-69,648,142
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
111.21
Standard deviation of sample read depth (HGVD)
50.08
Number of reference allele (HGVD)
1254
Number of alternative allele (HGVD)
1162
Allele Frequency (HGVD)
0.48096026490066224
Gene Symbol (HGVD)
CCND1
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))
rs9344
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4865
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8152
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
4910
East Asian Heterozygous Counts (ExAC)
2112
East Asian Homozygous Counts (ExAC)
1399
East Asian Allele Frequency (ExAC)
0.5694734400371143
Chromosome Counts in All Race (ExAC)
120946
Allele Counts in All Race (ExAC)
55046
Heterozygous Counts in All Race (ExAC)
29014
Homozygous Counts in All Race (ExAC)
13016
Allele Frequency in All Race (ExAC)
0.45512873513799545
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