chr17:41244217:GCTT> Detail (hg19) (BRCA1, LOC126862571)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,244,217-41,244,220 |
hg38 | chr17:43,092,200-43,092,203 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007298.3:c.788-1171_788-1168delAAGC | |
NM_007294.3:c.3328_3331delAAGC | NP_009225.1:p.Gln1111AsnfsTer5 | |
NM_007300.3:c.3328_3331delAAGC | NP_009231.2:p.Gln1111AsnfsTer5 |
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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2016-04-22 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2024-01-04 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-12-14 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-26 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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criteria provided, single submitter | Breast neoplasm |
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Detail | |
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2022-05-26 | criteria provided, single submitter | 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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2022-04-17 | criteria provided, single submitter | Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2022-04-17 | criteria provided, single submitter | Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2022-04-17 | criteria provided, single submitter | Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2022-04-17 | criteria provided, single submitter | Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1 |
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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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Breast-ovarian cancer, familial, susceptibility ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Breast neoplasm | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | 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
- rs80357701 dbSNP
- Genome
- hg19
- Position
- chr17:41,244,217-41,244,220
- Variant Type
- snv
- Reference Allele
- GCTT
- Alternative Allele
- -
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