chr17:43093193:G>A Detail (hg38) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,245,210-41,245,210 View the variant detail on this assembly version. |
hg38 | chr17:43,093,193-43,093,193 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.2338C>T | NP_009225.1:p.Gln780Ter |
NM_007299.3:c.787+1551C>T | ||
NM_007300.3:c.2338C>T | NP_009231.2:p.Gln780Ter |
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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2024-01-27 | 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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2022-03-17 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2022-05-05 | criteria provided, single submitter | Breast and/or ovarian cancer |
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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 | |
0.126 | 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.2338C>T (p.Gln780Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) AND Neoplasm of ovary | ClinVar | Detail |
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) AND Breast and/or ovarian cancer | 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
- rs80356945 dbSNP
- Genome
- hg38
- Position
- chr17:43,093,193-43,093,193
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser