chr11:534285:C>T Detail (hg38) (HRAS, LRRC56)

Information

Genome

Assembly Position
hg19 chr11:534,285-534,285 View the variant detail on this assembly version.
hg38 chr11:534,285-534,285

HGVS

Type Transcript Protein
RefSeq NM_001318054.1:c.38G>A NP_001304983.1:p.Gly13Asp
NM_176795.4:c.38G>A NP_789765.1:p.Gly13Asp
NM_001130442.2:c.38G>A NP_001123914.1:p.Gly13Asp
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 190020 OMIM
HGNC 5173 HGNC
Ensembl ENSG00000174775 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3448604 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-28 criteria provided, multiple submitters, no conflicts Costello syndrome unknown de novo germline Detail
Pathogenic 2023-08-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
not provided 2016-03-10 no assertion provided Neoplasm of the large intestine somatic Detail
Pathogenic 2018-01-15 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2020-06-18 criteria provided, single submitter Non-immune hydrops fetalis de novo Detail
Pathogenic 2016-12-12 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2022-03-10 criteria provided, single submitter Costello syndrome,linear nevus sebaceous syndrome,Malignant tumor of urinary bladder,large congenital melanocytic nevus,epidermal nevus,Thyroid cancer, nonmedullary, 2 unknown Detail
Pathogenic 2022-03-10 criteria provided, single submitter Costello syndrome,linear nevus sebaceous syndrome,Malignant tumor of urinary bladder,large congenital melanocytic nevus,epidermal nevus,Thyroid cancer, nonmedullary, 2 unknown Detail
Pathogenic 2022-03-10 criteria provided, single submitter Costello syndrome,linear nevus sebaceous syndrome,Malignant tumor of urinary bladder,large congenital melanocytic nevus,epidermal nevus,Thyroid cancer, nonmedullary, 2 unknown Detail
Pathogenic 2022-03-10 criteria provided, single submitter Costello syndrome,linear nevus sebaceous syndrome,Malignant tumor of urinary bladder,large congenital melanocytic nevus,epidermal nevus,Thyroid cancer, nonmedullary, 2 unknown Detail
Pathogenic 2022-03-10 criteria provided, single submitter Costello syndrome,linear nevus sebaceous syndrome,Malignant tumor of urinary bladder,large congenital melanocytic nevus,epidermal nevus,Thyroid cancer, nonmedullary, 2 unknown Detail
Pathogenic 2022-03-10 criteria provided, single submitter Costello syndrome,linear nevus sebaceous syndrome,Malignant tumor of urinary bladder,large congenital melanocytic nevus,epidermal nevus,Thyroid cancer, nonmedullary, 2 unknown Detail
Pathogenic 2022-12-09 criteria provided, single submitter HRAS-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin squamous cell carcinoma Vemurafenib C Predictive Supports Resistance Somatic 22256804 Detail
colorectal cancer Cetuximab D Predictive Supports Resistance Somatic 26561417 Detail
colorectal cancer Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor C Predictive Supports Resistance Somatic 3 26561417 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 thymoma One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
<0.001 thymic carcinoma One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
<0.001 thymoma One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
<0.001 Thymoma, type C One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
Annotation

Annotations

DescrptionSourceLinks
In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mut... CIViC Evidence Detail
In an in vitro study, Colo-320, SW48, and CaCO2 cell lines expressing HRAS G13D mutation were associ... CIViC Evidence Detail
Case report of a patient with metastatic colorectal carcinoma and a novel HRAS G13D mutation showed ... CIViC Evidence Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND Costello syndrome ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND not provided ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND Neoplasm of the large intestine ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND RASopathy ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND Non-immune hydrops fetalis ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND multiple conditions ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND multiple conditions ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND multiple conditions ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND multiple conditions ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND multiple conditions ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND multiple conditions ClinVar Detail
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) AND HRAS-related disorder ClinVar Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET 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
rs104894226 dbSNP
Genome
hg38
Position
chr11:534,285-534,285
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
G13D
Transcript 1 (CIViC Variant)
ENST00000451590.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/274
Genome browser