chr17:43045257:C>A Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,197,274-41,197,274 View the variant detail on this assembly version.
hg38 chr17:43,045,257-43,045,257

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.*421G>T
NM_007299.3:c.*527G>T
NM_007300.3:c.*421G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.327
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.448

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 113705 OMIM
HGNC 1100 HGNC
Ensembl ENSG00000012048 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57839173 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-01-12 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline Detail
Benign 2017-11-01 criteria provided, single submitter not specified germline Detail
Benign 2024-01-29 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Benign 2018-06-24 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.022 Triple Negative Breast Neoplasms A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predi... BeFree 24915755 Detail
0.280 Malignant neoplasm of ovary A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predi... BeFree 24915755 Detail
0.082 ovarian carcinoma A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predi... BeFree 24915755 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.*421G>T AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.*421G>T AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.*421G>T AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.*421G>T AND not provided ClinVar Detail
A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predict breast and ovaria... DisGeNET Detail
A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predict breast and ovaria... DisGeNET Detail
A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predict breast and ovaria... 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
rs8176318 dbSNP
Genome
hg38
Position
chr17:43,045,257-43,045,257
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs8176318
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3272
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5484
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
134
East Asian Allele Counts (ExAC)
60
East Asian Heterozygous Counts (ExAC)
38
East Asian Homozygous Counts (ExAC)
11
East Asian Allele Frequency (ExAC)
0.44776119402985076
Chromosome Counts in All Race (ExAC)
10760
Allele Counts in All Race (ExAC)
4804
Heterozygous Counts in All Race (ExAC)
2584
Homozygous Counts in All Race (ExAC)
1110
Allele Frequency in All Race (ExAC)
0.44646840148698885
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