chr17:39723967:TGAGGGAAAACACAT> Detail (hg38) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,880,220-37,880,234 |
| hg38 | chr17:39,723,967-39,723,981 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004448.3:c.2264_2278delTGAGGGAAAACACAT | NP_004439.2:p.Leu755_Thr759del |
| NM_001289937.1:c.2264_2278delTGAGGGAAAACACAT | NP_001276866.1:p.Leu755_Thr759del | |
| NM_001005862.2:c.2174_2188delTGAGGGAAAACACAT | NP_001005862.1:p.Leu725_Thr729del |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | Lapatinib,Neratinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 5 | 23220880 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In MCF10A cell lines retrovirally transduced with wildtype or mutant ERBB2, cells expressing the in-... | CIViC Evidence | Detail |
| NM_004448.4(ERBB2):c.2264_2278del (p.Leu755_Thr759del) AND Breast neoplasm | ClinVar | 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
- rs1131692241 dbSNP
- Genome
- hg38
- Position
- chr17:39,723,967-39,723,981
- Variant Type
- snv
- Reference Allele
- TGAGGGAAAACACAT
- Alternative Allele
- -
- Variant (CIViC) (CIViC Variant)
- DEL 755-759
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/37
- Summary (CIViC Variant)
- ERBB2 in-frame deletion of 755-759 was one of the first ERBB2 variants to be functionally classified (Bose et al. 2013). This mutation was shown to be an activating mutation in an in vitro assay. In the same paper, this mutation (along with other ERBB2 activating mutations) in MCF10A breast cancer cell lines have been shown to be sensitive to the kinase inhibitor neratinib. More recent evidence may show that HER2 acitivating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.
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