chr2:214792327:G>A Detail (hg38) (BARD1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:215,657,051-215,657,051 View the variant detail on this assembly version. |
hg38 | chr2:214,792,327-214,792,327 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000465.3:c.334C>T | NP_000456.2:p.Arg112Ter |
NR_104212.1:c.334C>T | ||
NR_104216.1:c.334C>T |
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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2022-08-03 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-12-22 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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Detail |
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2022-06-24 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-06-11 | no assertion criteria provided | Breast and/or ovarian cancer |
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Detail |
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2022-07-15 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) AND Familial cancer of breast | ClinVar | Detail |
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) AND not provided | ClinVar | Detail |
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) AND Malignant tumor of breast | ClinVar | 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
- rs758972589 dbSNP
- Genome
- hg38
- Position
- chr2:214,792,327-214,792,327
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8626
- 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)
- 120816
- 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)
- 8.277049397430804E-6
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