chr12:56085070:G>A Detail (hg38) (ERBB3)

Information

Genome

Assembly Position
hg19 chr12:56,478,854-56,478,854 View the variant detail on this assembly version.
hg38 chr12:56,085,070-56,085,070

HGVS

Type Transcript Protein
RefSeq NM_001982.3:c.310G>A NP_001973.2:p.Val104Met
NM_001005915.1:c.310G>A NP_001005915.1:p.Val104Met
Ensemble ENST00000267101.8:c.310G>A ENST00000267101.8:p.Val104Met
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 190151 OMIM
HGNC 3431 HGNC
Ensembl ENSG00000065361 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv220200395 TogoVar
COSMIC COSM1152549 COSMIC
MONDO
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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm 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 Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gallbladder carcinoma somatic Detail
Pathogenic no assertion criteria provided Malignant tumor of urinary bladder somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
transitional cell carcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 3 27044931 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this phase II trial, patients with metastatic platinum-refractory urothelial carcinoma (UC) recei... CIViC Evidence Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Gastric adenocarcinoma ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Uterine carcinosarcoma ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Neoplasm of uterine cervix ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Breast neoplasm ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Neoplasm of the large intestine ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Gallbladder carcinoma ClinVar Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Malignant tumor of urinary bladder 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
rs1057519893 dbSNP
Genome
hg38
Position
chr12:56,085,070-56,085,070
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
V104M
Transcript 1 (CIViC Variant)
ENST00000267101.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/701
Genome browser