chr14:68660428:T>C Detail (hg19) (RAD51B)

Information

Genome

Assembly Position
hg19 chr14:68,660,428-68,660,428
hg38 chr14:68,193,711-68,193,711 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001321812.1:c.757-98173T>C
NM_001321817.1:c.757-98173T>C
NM_133510.3:c.757-98173T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.978
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602948 OMIM
HGNC 9822 HGNC
Ensembl ENSG00000182185 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51162429 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-06-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Malignant neoplasm of breast Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... BeFree 24325915 Detail
<0.001 breast carcinoma Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... BeFree 24325915 Detail
0.120 Malignant neoplasm of breast Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... BeFree 24325915 Detail
<0.001 breast carcinoma Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... BeFree 24325915 Detail
0.132 Malignant neoplasm of breast Large-scale genotyping identifies 41 new loci associated with breast cancer risk... GWASCAT 23535729 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_133510.4(RAD51B):c.757-98173T>C AND not provided ClinVar Detail
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... DisGeNET Detail
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... DisGeNET Detail
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... DisGeNET Detail
Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... DisGeNET Detail
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2588809 dbSNP
Genome
hg19
Position
chr14:68,660,428-68,660,428
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))
rs2588809
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9777
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16387
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser