chr1:11124516:G>T Detail (hg38) (MTOR)

Information

Genome

Assembly Position
hg19 chr1:11,184,573-11,184,573 View the variant detail on this assembly version.
hg38 chr1:11,124,516-11,124,516

HGVS

Type Transcript Protein
RefSeq NM_004958.3:c.6644C>A NP_004949.1:p.Ser2215Tyr
Ensemble ENST00000361445.9:c.6644C>A ENST00000361445.9:p.Ser2215Tyr
ENST00000703140.1:c.6431C>A ENST00000703140.1:p.Ser2144Tyr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601231 OMIM
HGNC 3942 HGNC
Ensembl ENSG00000198793 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM20417 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other somatic MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
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 Papillary renal cell carcinoma type 1 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin 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 Papillary renal cell carcinoma, sporadic somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided renal carcinoma somatic Detail
Pathogenic 2020-09-16 no assertion criteria provided Isolated focal cortical dysplasia type II somatic Detail
Pathogenic 2022-02-17 reviewed by expert panel Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
endometrial adenocarcinoma Sirolimus D Predictive Supports Sensitivity/Response Somatic 2 24631838 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The ... CIViC Evidence Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Neoplasm of the large intestine ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Malignant melanoma of skin ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Papillary renal cell carcinoma, sporadic ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Glioblastoma ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Neoplasm of uterine cervix ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Renal carcinoma ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Isolated focal cortical dysplasia type II ClinVar Detail
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) AND Overgrowth syndrome and/or cerebral malformations due... 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
rs587777894 dbSNP
Genome
hg38
Position
chr1:11,124,516-11,124,516
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
S2215Y
Transcript 1 (CIViC Variant)
ENST00000361445.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/542
Genome browser