chr17:43106478:A>G Detail (hg38) (BRCA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,258,495-41,258,495 View the variant detail on this assembly version. |
| hg38 | chr17:43,106,478-43,106,478 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007294.3:c.190T>C | NP_009225.1:p.Cys64Arg |
| NM_007299.3:c.190T>C | NP_009230.2:p.Cys64Arg | |
| NM_007300.3:c.190T>C | NP_009231.2:p.Cys64Arg |
Summary
MGeND
| Clinical significance |
Uncertain significance
|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
breast-ovarian cancer, familial, susceptibility to |
germline
|
MGS000067
(TMGS000139) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2022-12-16 | criteria provided, multiple submitters, no conflicts | Breast-ovarian cancer, familial, susceptibility to, 1 |
not applicable
germline
unknown
|
Detail |
|
Pathogenic
|
2023-05-10 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2014-01-31 | no assertion criteria provided | not specified |
germline
|
Detail |
|
Pathogenic
|
2023-07-07 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-01-01 | criteria provided, multiple submitters, no conflicts | not provided |
unknown
germline
|
Detail |
|
Pathogenic
|
2022-05-04 | criteria provided, single submitter | Familial cancer of breast |
germline
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
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 | Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutat... | BeFree | 24516540 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
| NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) AND not specified | ClinVar | Detail |
| NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) AND not provided | ClinVar | Detail |
| NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) AND Familial cancer of breast | ClinVar | Detail |
| NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) AND Gastric cancer | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the R... | 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
- rs80357064 dbSNP
- Genome
- hg38
- Position
- chr17:43,106,478-43,106,478
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser