chr1:114716123:C>T Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,258,744-115,258,744 View the variant detail on this assembly version.
hg38 chr1:114,716,123-114,716,123

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.38G>A NP_002515.1:p.Gly13Asp
Ensemble ENST00000369535.5:c.38G>A ENST00000369535.5:p.Gly13Asp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164790 OMIM
HGNC 7989 HGNC
Ensembl ENSG00000213281 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM573 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
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-03-10 no assertion criteria provided juvenile myelomonocytic leukemia somatic Detail
Pathogenic 2011-03-10 no assertion criteria provided Noonan syndrome 6 unknown Detail
Likely pathogenic 2023-01-03 criteria provided, single submitter autoimmune lymphoproliferative syndrome type 4 germline somatic Detail
Pathogenic 2015-03-30 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma 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 gastric adenocarcinoma somatic Detail
Pathogenic 2016-03-10 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome 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 Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided non-Hodgkin lymphoma somatic Detail
Likely pathogenic 2020-09-01 criteria provided, single submitter Acute megakaryoblastic leukemia in down syndrome somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Tanespimycin C Predictive Supports Sensitivity/Response Somatic 2 18375819 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.490 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.360 Noonan syndrome 6 NA CLINVAR Detail
<0.001 Monosomy Genetic analyses revealed that both cell populations bore +21, while a G13D muta... BeFree 25228298 Detail
0.360 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER NA CLINVAR Detail
0.001 Hematologic Neoplasms We show here that the salient features of ALPS as well as a predisposition to he... BeFree 17517660 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 mycosis fungoides One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
Annotation

Annotations

DescrptionSourceLinks
Likely due to increased reliance of mutant NRAS on HSP90 for stabilization, inhibition of HSP90 by 1... CIViC Evidence Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Noonan syndrome 6 ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Autoimmune lymphoproliferative syndrome type 4 ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND not provided ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Medulloblastoma ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Malignant melanoma of skin ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Gastric adenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Melanoma ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Myelodysplastic syndrome ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Multiple myeloma ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Acute myeloid leukemia ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Neoplasm of the large intestine ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Non-Hodgkin lymphoma ClinVar Detail
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Acute megakaryoblastic leukemia in down syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genetic analyses revealed that both cell populations bore +21, while a G13D mutation of the NRAS gen... DisGeNET Detail
NA DisGeNET Detail
We show here that the salient features of ALPS as well as a predisposition to hematological malignan... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... 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
rs121434596 dbSNP
Genome
hg38
Position
chr1:114,716,123-114,716,123
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236418146476461E-6
Variant (CIViC) (CIViC Variant)
G13D
Transcript 1 (CIViC Variant)
ENST00000369535.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/93
Summary (CIViC Variant)
While the NRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still debated.
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