chr17:41256984:A>C Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,256,984-41,256,984 |
hg38 | chr17:43,104,967-43,104,967 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007298.3:c.213-11T>G | |
NM_007297.3:c.72-11T>G | ||
NM_007299.3:c.213-11T>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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2023-10-22 | criteria provided, multiple submitters, no conflicts | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2024-01-30 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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2023-11-10 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-05-10 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2017-02-23 | criteria provided, single submitter | Familial cancer of breast |
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Detail |
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2007-01-26 | no assertion criteria provided | Breast and/or ovarian cancer |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Breast-ovarian cancer, familial, susceptibility to, 1 | NA | CLINVAR | Detail | |
0.196 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
0.126 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.420 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.213-11T>G AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.213-11T>G AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.213-11T>G AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.213-11T>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.213-11T>G AND Familial cancer of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.213-11T>G AND Breast and/or ovarian cancer | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs80358061 dbSNP
- Genome
- hg19
- Position
- chr17:41,256,984-41,256,984
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121156
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.253821519363466E-6
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