chr17:41276113:T>C Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,276,113-41,276,113 |
hg38 | chr17:43,124,096-43,124,096 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.1A>G | NP_009225.1:p.? |
NM_007299.3:c.1A>G | NP_009230.2:p.? | |
NM_007300.3:c.1A>G | NP_009231.2:p.? |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-10-02 | criteria provided, multiple submitters, no conflicts | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2023-08-14 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-08-11 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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criteria provided, single submitter | Breast neoplasm |
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Detail | |
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2024-01-29 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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no assertion criteria provided |
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Detail | ||
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no assertion criteria provided | Familial cancer of breast |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
ovarian cancer | Rucaparib | C |
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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.1A>G (p.Met1Val) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) AND Breast neoplasm | ClinVar | Detail |
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) AND Familial cancer of breast | 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs80357287 dbSNP
- Genome
- hg19
- Position
- chr17:41,276,113-41,276,113
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- M1V
- Transcript 1 (CIViC Variant)
- ENST00000471181.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1236
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