chr1:114716127:C>T Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,258,748-115,258,748 View the variant detail on this assembly version.
hg38 chr1:114,716,127-114,716,127

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.34G>A NP_002515.1:p.Gly12Ser
Ensemble ENST00000369535.5:c.34G>A ENST00000369535.5:p.Gly12Ser
Summary

MGeND

Clinical significance Pathogenic Uncertain significance
Variant entry 3
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 164790 OMIM
HGNC 7989 HGNC
Ensembl ENSG00000213281 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM563 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance Langerhans cell histiocytosis (LCH) unknown MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Uncertain significance acute lymphoblastic leukaemia (ALL) unknown MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic Juvenile myelomonocytic leukemia somatic MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-12-02 no assertion criteria provided Noonan syndrome,juvenile myelomonocytic leukemia germline Detail
Pathogenic 2013-12-02 no assertion criteria provided Noonan syndrome,juvenile myelomonocytic leukemia germline Detail
Pathogenic 2022-02-03 criteria provided, single submitter not provided germline Detail
Pathogenic 2014-10-02 no assertion criteria provided Non-small 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 Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Pathogenic 2023-07-24 criteria provided, multiple submitters, no conflicts RASopathy germline Detail
Pathogenic 2018-11-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2023-09-11 criteria provided, single submitter Noonan syndrome 6 de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 diffuse large B-cell lymphoma Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... BeFree 9139869 Detail
<0.001 chronic lymphocytic leukemia Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... BeFree 9139869 Detail
0.490 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.360 Noonan syndrome 6 NA CLINVAR Detail
0.236 melanoma Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34... BeFree 24335517 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND not provided ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Non-small cell lung carcinoma ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Malignant melanoma of skin ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Myelodysplastic syndrome ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Melanoma ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Multiple myeloma ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Neoplasm of the large intestine ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Gastric adenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Acute myeloid leukemia ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND RASopathy ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan syndrome 6 ClinVar Detail
Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... DisGeNET Detail
Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34G&gt;T (G12C). 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
rs121913250 dbSNP
Genome
hg38
Position
chr1:114,716,127-114,716,127
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
G12S
Transcript 1 (CIViC Variant)
ENST00000369535.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/898
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