chr2:214780607:TCAC>CAT Detail (hg38) (BARD1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:215,645,331-215,645,334 View the variant detail on this assembly version. |
hg38 | chr2:214,780,607-214,780,610 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000465.3:c.1264_1267delinsATG | NP_000456.2:p.Val422MetfsTer53 |
NR_104212.1:c.1264_1267delinsATG | ||
NR_104216.1:c.1264_1267delinsATG |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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2014-11-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-07-25 | criteria provided, single submitter | not provided |
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Detail |
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2023-05-22 | criteria provided, single submitter | Familial cancer of breast |
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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.1264_1267delinsATG (p.Val422fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) AND not provided | ClinVar | Detail |
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) AND Familial cancer 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
- rs786203533 dbSNP
- Genome
- hg38
- Position
- chr2:214,780,607-214,780,610
- Variant Type
- snv
- Reference Allele
- TCAC
- Alternative Allele
- CAT
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