chr17:41228505:C>A Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,228,505-41,228,505 |
hg38 | chr17:43,076,488-43,076,488 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.4484G>T | NP_009225.1:p.Arg1495Met |
NM_007300.3:c.4547G>T | NP_009231.2:p.Arg1516Met | |
NM_007299.3:c.1172G>T | NP_009230.2:p.Arg391Met |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
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 |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
2020/04/20 | bronchus or lung, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-02-05 | criteria provided, multiple submitters, no conflicts | Breast-ovarian cancer, familial, susceptibility to, 1 |
![]() ![]() |
Detail |
![]() |
2024-01-11 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
![]() |
Detail |
![]() |
2023-03-30 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2022-01-04 | criteria provided, multiple submitters, no conflicts | not provided |
![]() ![]() |
Detail |
![]() |
2016-07-01 | criteria provided, single submitter | not specified |
![]() |
Detail |
![]() |
2017-02-23 | criteria provided, single submitter | Familial cancer of breast |
![]() |
Detail |
![]() |
2022-06-28 | criteria provided, single submitter | Breast and/or ovarian cancer |
![]() |
Detail |
![]() |
2019-09-01 | no assertion criteria provided | hereditary breast ovarian cancer syndrome,Breast-ovarian cancer, familial, susceptibility to, 1 |
![]() |
Detail |
![]() |
2019-09-01 | no assertion criteria provided | hereditary breast ovarian cancer syndrome,Breast-ovarian cancer, familial, susceptibility to, 1 |
![]() |
Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
ovarian cancer | Rucaparib | C |
![]() |
![]() |
Sensitivity/Response | Somatic | 27908594 | Detail |
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 |
---|---|---|
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient... | CIViC Evidence | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND not specified | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND Familial cancer of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND multiple conditions | ClinVar | Detail |
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) 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
- rs80357389 dbSNP
- Genome
- hg19
- Position
- chr17:41,228,505-41,228,505
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8642
- 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)
- 121358
- 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)
- 8.240083060037246E-6
- Variant (CIViC) (CIViC Variant)
- R1495M
- Transcript 1 (CIViC Variant)
- ENST00000357654.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1242
Genome browser