chr17:43067652:GTTA> Detail (hg38) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,219,669-41,219,672 |
hg38 | chr17:43,067,652-43,067,655 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.5027_5030delTAAC | NP_009225.1:p.Thr1677IlefsTer2 |
NM_007299.3:c.1715_1718delTAAC | NP_009230.2:p.Thr573IlefsTer2 | |
NM_007300.3:c.5090_5093delTAAC | NP_009231.2:p.Thr1698IlefsTer2 |
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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2016-09-08 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2023-12-08 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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2023-11-13 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-11-06 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-11-01 | criteria provided, single submitter | Breast neoplasm |
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Detail |
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2013-11-04 | no assertion criteria provided | Breast and/or ovarian cancer |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2021-11-18 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 |
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Detail |
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2021-11-18 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 |
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Detail |
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2021-11-18 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 |
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Detail |
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2021-11-18 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 |
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Detail |
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no assertion criteria provided | Familial cancer of breast |
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Detail | |
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2021-07-01 | no assertion criteria provided | Gastric 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.5030_5033del (p.Thr1677fs) AND Breast-ovarian cancer, familial, susceptibility ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Breast neoplasm | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Familial cancer of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Gastric 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 |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs80357580 dbSNP
- Genome
- hg38
- Position
- chr17:43,067,652-43,067,655
- Variant Type
- snv
- Reference Allele
- GTTA
- Alternative Allele
- -
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