chr17:41244614:A>C Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,244,614-41,244,614 |
hg38 | chr17:43,092,597-43,092,597 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007298.3:c.788-1565T>G | |
NM_007299.3:c.788-1565T>G | ||
NM_007297.3:c.2793T>G | NP_009228.2:p.Tyr931Ter |
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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2023-04-13 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-01-24 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-21 | 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 |
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 | |
0.002 | uterine corpus cancer | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.012 | Malignant neoplasm of endometrium | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.143 | endometrial carcinoma | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.012 | uterine corpus cancer | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.031 | endometrial carcinoma | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.002 | endometrial carcinoma | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.009 | uterine corpus cancer | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.009 | Malignant neoplasm of endometrium | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
0.002 | Malignant neoplasm of endometrium | Unselected Jewish women with EC who were diagnosed from January 1982 to January ... | BeFree | 20850175 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) AND Malignant tumor of breast | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | DisGeNET | Detail |
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... | 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
- rs80357115 dbSNP
- Genome
- hg19
- Position
- chr17:41,244,614-41,244,614
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
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