chr17:41243950:G>A Detail (hg19) (BRCA1, LOC126862571)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,243,950-41,243,950 |
hg38 | chr17:43,091,933-43,091,933 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007298.3:c.788-901C>T | |
NM_007294.3:c.3598C>T | NP_009225.1:p.Gln1200Ter | |
NM_007300.3:c.3598C>T | NP_009231.2:p.Gln1200Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-01-04 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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2016-04-22 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2023-08-21 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-06-30 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-10-31 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S |
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Detail |
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2018-10-31 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S |
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Detail |
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2018-10-31 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S |
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Detail |
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2018-10-31 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S |
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Detail |
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2018-07-02 | criteria provided, single submitter | not specified |
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Detail |
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2022-09-01 | criteria provided, single submitter | BRCA1-related disorder |
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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 | |
0.046 | Carcinogenesis | To investigate the potential consequences of somatic heterozygosity for a BRCA1 ... | BeFree | 18158561 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND not specified | ClinVar | Detail |
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND BRCA1-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To investigate the potential consequences of somatic heterozygosity for a BRCA1 mutation demonstrabl... | 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
- rs62625307 dbSNP
- Genome
- hg19
- Position
- chr17:41,243,950-41,243,950
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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