chr17:39723967:T>C Detail (hg38) (ERBB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:37,880,220-37,880,220 View the variant detail on this assembly version. |
hg38 | chr17:39,723,967-39,723,967 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004448.3:c.2264T>C | NP_004439.2:p.Leu755Ser |
NM_001289937.1:c.2264T>C | NP_001276866.1:p.Leu755Ser | |
NM_001005862.2:c.2174T>C | NP_001005862.1:p.Leu725Ser |
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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2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
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Detail |
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2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma, sporadic |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
colon cancer | Trastuzumab,Neratinib,Lapatinib | D |
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Sensitivity/Response | Somatic | 4 | 26243863 | Detail |
breast cancer | Lapatinib | D |
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Resistance | Somatic | 5 | 23220880 | Detail |
breast cancer | Neratinib | D |
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Sensitivity/Response | Somatic | 5 | 23220880 | Detail |
colorectal adenocarcinoma | Leucovorin,Fluorouracil,Trastuzumab | C |
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Sensitivity/Response | Somatic | 3 | 27626067 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Colon cancer patient derived xenografts with HER2 mutations are sensitive to HER2 targeted drugs and... | CIViC Evidence | Detail |
The L755S mutation was shown to confer resistance to lapatinib in MCF10A cell lines retrovirally tra... | CIViC Evidence | Detail |
The L755S mutation showed mild response to neratinib in MCF10A cell lines retrovirally transduced wi... | CIViC Evidence | Detail |
Patient was a 35 year old male who was treated with pseudoadjuvant FOLFOX chemotherapy. Patient rela... | CIViC Evidence | Detail |
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Malignant melanoma of skin | ClinVar | Detail |
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Breast neoplasm | ClinVar | Detail |
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Gastric adenocarcinoma | 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 |
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- Gene
- -
- dbSNP
- rs121913470 dbSNP
- Genome
- hg38
- Position
- chr17:39,723,967-39,723,967
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- L755S
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/39
- Summary (CIViC Variant)
- ERBB2 L755S was one of the first ERBB2 variants to be functionally classified (Bose et al. 2013). This mutation was not shown to be an activating mutation, unlike many of the other variants queried. This mutation was also shown to confer resistance to the tyrosine kinase inhibitor lapatinib in MCF10A cell lines.
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