chr17:41243941:G>A Detail (hg19) (BRCA1, LOC126862571)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,243,941-41,243,941 |
| hg38 | chr17:43,091,924-43,091,924 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007297.3:c.3466C>T | NP_009228.2:p.Arg1156Ter |
| NM_007294.3:c.3607C>T | NP_009225.1:p.Arg1203Ter | |
| NM_007298.3:c.788-892C>T |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 5 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2021/03/19 | Colorectal |
germline
|
MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
breast-ovarian cancer, familial, susceptibility to |
germline
|
MGS000069
(TMGS000141) |
Kenjiro Kosaki |
Keio University Okayama University |
||||
|
Pathogenic
|
breast-ovarian cancer, familial, susceptibility to |
germline
|
MGS000069
(TMGS000141) |
Kenjiro Kosaki |
Keio University Okayama University |
||||
|
Pathogenic
|
breast-ovarian cancer, familial, susceptibility to |
germline
|
MGS000069
(TMGS000141) |
Kenjiro Kosaki |
Keio University Okayama University |
||||
|
Pathogenic
|
breast-ovarian cancer, familial, susceptibility to |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2016-04-22 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
germline
maternal
unknown
|
Detail |
|
Pathogenic
|
2023-12-01 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-04-24 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2014-06-01 | no assertion criteria provided | Breast neoplasm |
germline
|
Detail |
|
Pathogenic
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-10-13 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
germline
maternal
unknown
|
Detail |
|
Pathogenic
|
2017-02-16 | criteria provided, single submitter | ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
2016-03-13 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2021-09-11 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Malignant tumor of urinary bladder |
somatic
|
Detail | |
|
Pathogenic
|
2023-05-16 | criteria provided, single submitter | BRCA1-related disorder |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Breast neoplasm | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND not provided | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Familial cancer of breast | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Ovarian cancer | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Breast and/or ovarian cancer | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Neoplasm of ovary | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Ovarian carcinoma | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Gastric cancer | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND Malignant tumor of urinary bladder | ClinVar | Detail |
| NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) AND BRCA1-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs62625308 dbSNP
- Genome
- hg19
- Position
- chr17:41,243,941-41,243,941
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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