chr11:534285:C>A Detail (hg19) (HRAS, LRRC56)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_176795.4:c.38G>T NP_789765.1:p.Gly13Val
NM_001318054.1:c.38G>T NP_001304983.1:p.Gly13Val
NM_001130442.2:c.38G>T NP_001123914.1:p.Gly13Val
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 190020 OMIM
HGNC 5173 HGNC
Ensembl ENSG00000174775 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM120918 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-09-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic 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 multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma 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 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck 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 2015-07-14 no assertion criteria provided thymoma 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 uterine cervix somatic Detail
Pathogenic 2023-03-27 criteria provided, multiple submitters, no conflicts Costello syndrome de novo germline Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Pathogenic 2016-06-07 no assertion criteria provided KA-like vemurafenib-induced squamous lesions somatic Detail
CIViC
[No Data.]
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
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND not provided ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Hepatocellular carcinoma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Lung adenocarcinoma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Pancreatic adenocarcinoma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Neoplasm of the large intestine ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Multiple myeloma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Acute myeloid leukemia ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Gastric adenocarcinoma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Squamous cell lung carcinoma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Malignant melanoma of skin ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Thymoma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Breast neoplasm ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Neoplasm of uterine cervix ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Costello syndrome ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND Lip and oral cavity carcinoma ClinVar Detail
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) AND KA-like vemurafenib-induced squamous lesions 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
hg19
Position
chr11:534,285-534,285
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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