chr17:43049192:G> Detail (hg38) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,201,209-41,201,209 |
hg38 | chr17:43,049,192-43,049,192 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007297.3:c.5194delC | NP_009228.2:p.Gln1732AsnfsTer14 |
NM_007294.3:c.5335delC | NP_009225.1:p.Gln1779AsnfsTer14 | |
NM_007299.3:c.2021-1489delC |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-09-08 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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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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2021-11-15 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-06-06 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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no assertion criteria provided |
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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.5335del (p.Gln1779fs) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) AND Malignant tumor of breast | 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
- rs80357590 dbSNP
- Genome
- hg38
- Position
- chr17:43,049,192-43,049,192
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1566042100393245E-4
- Chromosome Counts in All Race (ExAC)
- 121006
- 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)
- 8.26405302216419E-6
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