chr17:41197274:C>A Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,197,274-41,197,274 |
hg38 | chr17:43,045,257-43,045,257 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007299.3:c.*527G>T | |
NM_007294.3:c.*421G>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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-01-12 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2017-11-01 | criteria provided, single submitter | not specified |
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Detail |
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2024-01-29 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
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2018-06-24 | criteria provided, single submitter | not provided |
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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
Descrption | Source | Links |
---|---|---|
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
- hg19
- Position
- chr17:41,197,274-41,197,274
- 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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