chr17:43091783:C>T Detail (hg38) (BRCA1, LOC126862571)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,243,800-41,243,800 View the variant detail on this assembly version. |
hg38 | chr17:43,091,783-43,091,783 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.3748G>A | NP_009225.1:p.Glu1250Lys |
NM_007299.3:c.788-751G>A | ||
NM_007300.3:c.3748G>A | NP_009231.2:p.Glu1250Lys |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2015-08-10 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
![]() ![]() |
Detail |
![]() |
2023-08-15 | criteria provided, conflicting interpretations | not specified |
![]() |
Detail |
![]() |
2014-06-01 | no assertion criteria provided | Breast neoplasm |
![]() |
Detail |
![]() ![]() |
2020-10-13 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2024-02-01 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
![]() |
Detail |
![]() |
2022-11-08 | criteria provided, single submitter | Breast and/or ovarian cancer |
![]() |
Detail |
![]() |
no assertion criteria provided |
![]() |
Detail | ||
![]() |
2021-11-03 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND not specified | ClinVar | Detail |
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND Breast neoplasm | ClinVar | Detail |
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND Malignant tumor of breast | ClinVar | Detail |
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) AND not provided | 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
- rs28897686 dbSNP
- Genome
- hg38
- Position
- chr17:43,091,783-43,091,783
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121388
- Allele Counts in All Race (ExAC)
- 30
- Heterozygous Counts in All Race (ExAC)
- 30
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4714139783174615E-4
Genome browser