chr17:43076573:G>A Detail (hg38) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,228,590-41,228,590 View the variant detail on this assembly version. |
hg38 | chr17:43,076,573-43,076,573 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007294.3:c.4399C>T | NP_009225.1:p.Gln1467Ter |
NM_007299.3:c.1087C>T | NP_009230.2:p.Gln363Ter | |
NM_007300.3:c.4462C>T | NP_009231.2:p.Gln1488Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-10-18 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2023-08-16 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
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2010-07-07 | no assertion criteria provided | Breast and/or ovarian cancer |
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Detail |
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no assertion criteria provided | not provided |
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Detail | |
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2023-09-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
ovarian cancer | Rucaparib | C |
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Sensitivity/Response | Somatic | 27908594 | Detail |
DisGeNET
[No Data.]
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.4399C>T (p.Gln1467Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs397509171 dbSNP
- Genome
- hg38
- Position
- chr17:43,076,573-43,076,573
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- Q1467*
- Transcript 1 (CIViC Variant)
- ENST00000357654.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1246
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