chr17:41245201:T>C Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,245,201-41,245,201 |
hg38 | chr17:43,093,184-43,093,184 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007298.3:c.787+1560A>G | |
NM_007300.3:c.2347A>G | NP_009231.2:p.Ile783Val | |
NM_007299.3:c.787+1560A>G |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 3 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
2021/03/19 | control |
![]() |
MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
![]() |
2021/03/19 | Colorectal |
![]() |
MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2023-03-23 | criteria provided, conflicting interpretations | Breast-ovarian cancer, familial, susceptibility to, 1 |
![]() ![]() |
Detail |
![]() ![]() |
2023-03-23 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2019-10-30 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
![]() |
no assertion criteria provided |
![]() |
Detail | ||
![]() |
2024-01-02 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.080 | breast carcinoma | Increased risk of breast cancer associated with the I655V allele was also observ... | BeFree | 14569185 | Detail |
0.360 | Malignant neoplasm of breast | Increased risk of breast cancer associated with the I655V allele was also observ... | BeFree | 14569185 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... | DisGeNET | Detail |
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... | 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
- rs80356948 dbSNP
- Genome
- hg19
- Position
- chr17:41,245,201-41,245,201
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 10
- East Asian Heterozygous Counts (ExAC)
- 10
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.001155802126675913
- Chromosome Counts in All Race (ExAC)
- 121364
- Allele Counts in All Race (ExAC)
- 10
- Heterozygous Counts in All Race (ExAC)
- 10
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.239675686364985E-5
Genome browser