chr13:32340760:CTTAA> Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,914,897-32,914,901 |
| hg38 | chr13:32,340,760-32,340,764 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.6405_6409delCTTAA | NP_000050.2:p.Asn2135LysfsTer3 |
| Ensemble | ENST00000380152.8:c.6405_6409delCTTAA | ENST00000380152.8:p.Asn2135LysfsTer3 |
| ENST00000530893.7:c.6036_6040delCTTAA | ENST00000530893.7:p.Asn2012LysfsTer3 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| 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:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2016-04-22 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-09-19 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
Pathogenic
Likely pathogenic
|
2023-03-08 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2015-11-01 | criteria provided, single submitter | Breast neoplasm |
germline
|
Detail |
|
Pathogenic
|
2017-02-23 | criteria provided, single submitter | Familial cancer of breast |
germline
|
Detail |
|
Pathogenic
|
2017-11-20 | criteria provided, single submitter | Cancer of the pancreas |
germline
|
Detail |
|
Pathogenic
|
2019-01-14 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
2019-05-17 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
2020-04-02 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
germline
|
Detail |
|
Pathogenic
|
2021-09-11 | no assertion criteria provided | breast carcinoma |
germline
|
Detail |
|
Pathogenic
|
2022-03-05 | criteria provided, single submitter | BRCA2-related disorder |
germline
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Breast-ovarian cancer, familial, susceptibility to, 2 | NA | CLINVAR | Detail | |
| 0.174 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
| 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.6405_6409del (p.Asn2135fs) AND Breast-ovarian cancer, familial, susceptibility ... | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND not provided | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Breast neoplasm | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Familial cancer of breast | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Cancer of the pancreas | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND not specified | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Breast and/or ovarian cancer | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Breast-ovarian cancer, familial, susceptibility ... | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Breast carcinoma | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND BRCA2-related disorder | ClinVar | Detail |
| NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) AND Gastric cancer | 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
- rs80359584 dbSNP
- Genome
- hg38
- Position
- chr13:32,340,760-32,340,764
- Variant Type
- snv
- Reference Allele
- CTTAA
- Alternative Allele
- -
- 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))
- rs80359584
- 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
- East Asian Chromosome Counts (ExAC)
- 8488
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 118050
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.470986869970351E-6
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