chr17:41258494:C>T Detail (hg19) (BRCA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,258,494-41,258,494 |
| hg38 | chr17:43,106,477-43,106,477 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007300.3:c.191G>A | NP_009231.2:p.Cys64Tyr |
| NM_007298.3:c.191G>A | NP_009229.2:p.Cys64Tyr | |
| NM_007299.3:c.191G>A | NP_009230.2:p.Cys64Tyr |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-11-27 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-04-23 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
unknown
germline
not applicable
paternal
|
Detail |
|
Pathogenic
|
2021-08-30 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-08-18 | criteria provided, single submitter | Pancreatic cancer, susceptibility to, 4 |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| ovarian cancer | Rucaparib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 27908594 | Detail |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient... | CIViC Evidence | Detail |
| NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
| NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND not provided | ClinVar | Detail |
| NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Pancreatic cancer, susceptibility to, 4 | ClinVar | 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
- rs55851803 dbSNP
- Genome
- hg19
- Position
- chr17:41,258,494-41,258,494
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- C64Y
- Transcript 1 (CIViC Variant)
- ENST00000471181.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1239
Genome browser