chr17:43063931:G>A Detail (hg38) (BRCA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,215,948-41,215,948 View the variant detail on this assembly version. |
| hg38 | chr17:43,063,931-43,063,931 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007294.3:c.5095C>T | NP_009225.1:p.Arg1699Trp |
| NM_007299.3:c.1783C>T | NP_009230.2:p.Arg595Trp | |
| NM_007300.3:c.5158C>T | NP_009231.2:p.Arg1720Trp |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| 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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2017/11/09 | Endometrioid adenocarcinoma |
somatic
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
|
Pathogenic
|
breast-ovarian cancer, familial, susceptibility to |
germline
|
MGS000069
(TMGS000141) |
Kenjiro Kosaki |
Keio University Okayama University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-01-08 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2015-08-10 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-11-15 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2014-06-01 | no assertion criteria provided | Breast and colorectal cancer |
germline
|
Detail |
|
Pathogenic
|
2024-01-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2015-05-19 | no assertion criteria provided | Fanconi anemia complementation group A |
paternal
|
Detail |
|
Pathogenic
|
2020-01-01 | criteria provided, single submitter | ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
2024-02-12 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
germline
unknown
|
Detail |
Pathogenic
Likely pathogenic
|
2015-02-01 | no assertion criteria provided | Fanconi anemia, complementation group S |
germline
inherited
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
unknown
|
Detail | ||
|
Pathogenic
|
2023-02-21 | no assertion criteria provided | endometrial carcinoma |
germline
|
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 | |
| 0.080 | breast carcinoma | Measures of genetic risk (report of family history, segregation) were assessed f... | BeFree | 22889855 | Detail |
| 0.360 | Malignant neoplasm of breast | Measures of genetic risk (report of family history, segregation) were assessed f... | BeFree | 22889855 | Detail |
| 0.129 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Breast and colorectal cancer | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND not provided | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Fanconi anemia complementation group A | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Ovarian cancer | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Familial cancer of breast | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Fanconi anemia, complementation group S | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Malignant tumor of breast | ClinVar | Detail |
| NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) AND Endometrial carcinoma | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&... | DisGeNET | Detail |
| Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&... | DisGeNET | Detail |
| NA | 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
- rs55770810 dbSNP
- Genome
- hg38
- Position
- chr17:43,063,931-43,063,931
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8594
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1636025133814289E-4
- Chromosome Counts in All Race (ExAC)
- 120306
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4936412149019997E-5
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