chr17:39723405:G>A Detail (hg38) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,879,658-37,879,658 View the variant detail on this assembly version. |
| hg38 | chr17:39,723,405-39,723,405 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004448.3:c.2033G>A | NP_004439.2:p.Arg678Gln |
| NM_001289937.1:c.2033G>A | NP_001276866.1:p.Arg678Gln | |
| NM_001005862.2:c.1943G>A | NP_001005862.1:p.Arg648Gln |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 6 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University | ||||
|
Likely pathogenic
|
salivary gland neoplasms |
somatic
|
MGS000044
(TMGS000097) |
Kohei Miyazono | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
not provided
|
2016-03-10 | no assertion provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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 |
|---|---|---|
| MCF10A cells transduced with ERBB2 harboring an R678Q mutation were sensitive to lapatinib and the i... | CIViC Evidence | Detail |
| NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Breast neoplasm | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Gastric adenocarcinoma | 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
- rs1057519862 dbSNP
- Genome
- hg38
- Position
- chr17:39,723,405-39,723,405
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- R678Q
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/42
- Summary (CIViC Variant)
- ERBB2 R678Q was shown to have NO functional effect in tissue culture assay (Bose et al 2013). This conclusion was confirmed by a second, independent lab.
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