chr13:32363225:A>G Detail (hg38) (BRCA2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:32,937,362-32,937,362 View the variant detail on this assembly version. |
hg38 | chr13:32,363,225-32,363,225 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000059.3:c.8023A>G | NP_000050.2:p.Ile2675Val |
Ensemble | ENST00000380152.8:c.8023A>G | ENST00000380152.8:p.Ile2675Val |
ENST00000530893.7:c.7654A>G | ENST00000530893.7:p.Ile2552Val |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000067
(TMGS000139) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-12-26 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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2023-04-12 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-04-23 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 2 |
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Detail |
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2022-02-22 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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Detail |
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2022-05-27 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
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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 |
---|---|---|---|---|---|
0.391 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail | |
0.128 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND not provided | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Familial cancer of breast | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions | ClinVar | Detail |
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Gastric cancer | ClinVar | 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
- rs397507954 dbSNP
- Genome
- hg38
- Position
- chr13:32,363,225-32,363,225
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs397507954
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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