chr15:40695330:G>C Detail (hg38) (RAD51, LOC130056864)

Information

Genome

Assembly Position
hg19 chr15:40,987,528-40,987,528 View the variant detail on this assembly version.
hg38 chr15:40,695,330-40,695,330

HGVS

Type Transcript Protein
RefSeq NM_002875.4:c.-98G>C
NM_001164269.1:c.-3+9G>C
NM_001164270.1:c.-98G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.120
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 179617 OMIM
HGNC 9817 HGNC
Ensembl ENSG00000051180 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52644224 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2007-12-01 no assertion criteria provided Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers germline Detail
Benign 2018-06-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Non-small cell lung carcinoma We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (... BeFree 21647442 Detail
0.080 breast carcinoma A single-nucleotide polymorphism (SNP) in the 5'-untranslated region (UTR) of RA... BeFree 20461453 Detail
0.480 Malignant neoplasm of breast A single-nucleotide polymorphism (SNP) in the 5'-untranslated region (UTR) of RA... BeFree 20461453 Detail
0.216 Malignant neoplasm of breast [We also analyzed the effect of combined genotypes among RAD51-135G>C, Thr241Met... GAD 20054644 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002875.5(RAD51):c.-98G>C AND Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers ClinVar Detail
NM_002875.5(RAD51):c.-98G>C AND not provided ClinVar Detail
We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (i.e., RAD51 -135G&gt... DisGeNET Detail
A single-nucleotide polymorphism (SNP) in the 5'-untranslated region (UTR) of RAD51, 135G&gt;C (rs18... DisGeNET Detail
A single-nucleotide polymorphism (SNP) in the 5'-untranslated region (UTR) of RAD51, 135G&gt;C (rs18... DisGeNET Detail
[We also analyzed the effect of combined genotypes among RAD51-135G>C, Thr241Met, and E233G polymorp... 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
rs1801320 dbSNP
Genome
hg38
Position
chr15:40,695,330-40,695,330
Variant Type
snv
Reference Allele
G
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))
rs1801320
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1202
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2015
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser