chr17:41246481:T>C Detail (hg19) (BRCA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,246,481-41,246,481 |
| hg38 | chr17:43,094,464-43,094,464 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007298.3:c.787+280A>G | |
| NM_007300.3:c.1067A>G | NP_009231.2:p.Gln356Arg | |
| NM_007294.3:c.1067A>G | NP_009225.1:p.Gln356Arg |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2020/04/20 | body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-11-29 | criteria provided, single submitter | not provided |
germline
unknown
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
unknown
|
Detail |
|
Benign
|
2015-08-10 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
germline
unknown
|
Detail |
|
Benign
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
germline
unknown
|
Detail |
|
Benign
|
2020-01-29 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Uncertain significance
|
2015-07-20 | no assertion criteria provided | Breast ductal adenocarcinoma |
germline
|
Detail |
|
Benign
|
2017-02-23 | criteria provided, single submitter | Familial cancer of breast |
germline
|
Detail |
|
Benign
|
no assertion criteria provided |
germline
|
Detail | ||
|
Benign
|
2022-03-23 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast |
unknown
|
Detail |
|
Benign
|
2022-03-23 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast |
unknown
|
Detail |
|
Benign
|
2022-03-23 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast |
unknown
|
Detail |
|
Benign
|
2022-03-23 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.032 | Epithelial ovarian cancer | No association was detected between EOC risk and BRCA1 Q356R, BRCA1 P871L, RAD51... | BeFree | 15924337 | Detail |
| 0.080 | breast carcinoma | Since these BRCA2 variants appear to be polymorphisms in the Cypriot population,... | BeFree | 11836613 | Detail |
| 0.080 | breast carcinoma | Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any s... | BeFree | 18288416 | Detail |
| 0.360 | Malignant neoplasm of breast | Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any s... | BeFree | 18288416 | Detail |
| 0.080 | breast carcinoma | Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in... | BeFree | 11836613 | Detail |
| 0.360 | Malignant neoplasm of breast | Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in... | BeFree | 11836613 | Detail |
| 0.480 | Malignant neoplasm of breast | Since these BRCA2 variants appear to be polymorphisms in the Cypriot population,... | BeFree | 11836613 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND not provided | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND not specified | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND Breast ductal adenocarcinoma | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND Familial cancer of breast | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND Malignant tumor of breast | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND multiple conditions | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND multiple conditions | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND multiple conditions | ClinVar | Detail |
| NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND multiple conditions | ClinVar | Detail |
| No association was detected between EOC risk and BRCA1 Q356R, BRCA1 P871L, RAD51 g135c, RAD51 g172t,... | DisGeNET | Detail |
| Since these BRCA2 variants appear to be polymorphisms in the Cypriot population, we suggest that the... | DisGeNET | Detail |
| Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any significant associati... | DisGeNET | Detail |
| Conversely, the BRCA1 Q356R and BRCA2 203G>A polymorphisms did not show any significant associati... | DisGeNET | Detail |
| Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. | DisGeNET | Detail |
| Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. | DisGeNET | Detail |
| Since these BRCA2 variants appear to be polymorphisms in the Cypriot population, we suggest that the... | 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
- rs1799950 dbSNP
- Genome
- hg19
- Position
- chr17:41,246,481-41,246,481
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 77.15
- Standard deviation of sample read depth (HGVD)
- 52.30
- Number of reference allele (HGVD)
- 2419
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1322314049586776E-4
- Gene Symbol (HGVD)
- BRCA1
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 121396
- Allele Counts in All Race (ExAC)
- 5350
- Heterozygous Counts in All Race (ExAC)
- 4998
- Homozygous Counts in All Race (ExAC)
- 176
- Allele Frequency in All Race (ExAC)
- 0.04407064483179018
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