chr1:114713908:T>C Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,256,529-115,256,529 View the variant detail on this assembly version.
hg38 chr1:114,713,908-114,713,908

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.182A>G NP_002515.1:p.Gln61Arg
Ensemble ENST00000369535.5:c.182A>G ENST00000369535.5:p.Gln61Arg
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM584 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/02/08 Rectal cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic other somatic MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-01-15 no assertion criteria provided Thyroid cancer, nonmedullary, 2 somatic Detail
Pathogenic 2014-01-15 no assertion criteria provided epidermal nevus somatic Detail
Pathogenic 2011-08-12 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Pathogenic 2023-10-14 criteria provided, single submitter large congenital melanocytic nevus somatic Detail
Pathogenic 2014-01-15 no assertion criteria provided Neurocutaneous melanocytosis somatic Detail
Pathogenic 2014-01-15 no assertion criteria provided linear nevus sebaceous syndrome somatic Detail
Pathogenic 2023-09-18 criteria provided, multiple submitters, no conflicts not provided germline 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 B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Adrenal cortex carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Pathogenic 2016-03-10 no assertion criteria provided melanoma 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 Nasopharyngeal neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma 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 glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided 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 Malignant neoplasm of body of uterus somatic Detail
Uncertain significance 2024-04-04 criteria provided, single submitter Noonan syndrome 6 germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Temozolomide C Predictive Supports Sensitivity/Response Somatic 2 21576590 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Metastatic melanoma Immunohistochemistry as a potential tool for routine detection of the NRAS Q61R ... BeFree 25659223 Detail
<0.001 differentiated thyroid gland carcinoma BRAF mutation was present in 65% of 94 DTC and p.Q61R NRAS in one. BeFree 24468978 Detail
0.121 Follicular thyroid carcinoma NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carci... BeFree 16555627 Detail
0.240 Neurocutaneous melanosis Genotypic and gene expression studies in congenital melanocytic nevi: insight in... UNIPROT 18633438 Detail
0.009 Neoplasm Metastasis Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... BeFree 14695143 Detail
<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 Undifferentiated carcinoma NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carci... BeFree 16555627 Detail
0.360 melanoma These senescence phenotypes were p16(INK4A)- or p53-independent, however, severa... BeFree 18679422 Detail
0.002 Neoplasm Metastasis Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... BeFree 15737846 Detail
0.240 NEVUS, EPIDERMAL (disorder) Genotypic and gene expression studies in congenital melanocytic nevi: insight in... UNIPROT 18633438 Detail
0.360 GIANT PIGMENTED HAIRY NEVUS Genotypic and gene expression studies in congenital melanocytic nevi: insight in... UNIPROT 18633438 Detail
0.121 Follicular thyroid carcinoma NA CLINVAR Detail
0.236 melanoma We have evaluated five real-time ARMS assays: BRAF 1799T&gt;A, [this includes V6... BeFree 20925915 Detail
<0.001 chronic lymphocytic leukemia Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... BeFree 9139869 Detail
0.009 Neoplasm Metastasis Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... BeFree 15737846 Detail
0.002 Neoplasm Metastasis Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... BeFree 14695143 Detail
0.240 Neurocutaneous melanosis NA CLINVAR Detail
0.121 Non-small cell lung carcinoma NA CLINVAR Detail
0.360 GIANT PIGMENTED HAIRY NEVUS NA CLINVAR Detail
0.007 Carcinoma, Papillary NRAS mutation was observed in six cases (6%), all in histological types other th... BeFree 14508525 Detail
0.240 NEVUS, EPIDERMAL (disorder) NA CLINVAR Detail
0.006 Cutaneous Melanoma We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations an... BeFree 25048604 Detail
0.004 Metastatic melanoma To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed,... BeFree 16818621 Detail
0.049 Metastatic melanoma To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed,... BeFree 16818621 Detail
0.236 melanoma We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations an... BeFree 25048604 Detail
0.431 melanoma Besides confirming the presence of known melanoma driver mutations (BRAF(V600E),... BeFree 23704925 Detail
0.236 melanoma Our data suggest that one of the major functions of C-MYC overexpression in mela... BeFree 18679422 Detail
<0.001 Invasive Skin Melanoma Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas f... BeFree 25048604 Detail
<0.001 Invasive Skin Melanoma Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas f... BeFree 25048604 Detail
0.236 melanoma Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48%... BeFree 23855428 Detail
0.236 melanoma Besides confirming the presence of known melanoma driver mutations (BRAF(V600E),... BeFree 23704925 Detail
0.431 melanoma Our data suggest that one of the major functions of C-MYC overexpression in mela... BeFree 18679422 Detail
Annotation

Annotations

DescrptionSourceLinks
In a melanoma patient with Q61R mutation, treatment with temozolomide resulted in overall survival o... CIViC Evidence Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Thyroid cancer, nonmedullary, 2 ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Epidermal nevus ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Large congenital melanocytic nevus ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Neurocutaneous melanocytosis ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Linear nevus sebaceous syndrome ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND not provided ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Adrenal cortex carcinoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Neoplasm of brain ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Lung adenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Melanoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Malignant melanoma of skin ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Nasopharyngeal neoplasm ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Multiple myeloma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Hepatocellular carcinoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Neoplasm of the large intestine ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Glioblastoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Gastric adenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Acute myeloid leukemia ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Noonan syndrome 6 ClinVar Detail
Immunohistochemistry as a potential tool for routine detection of the NRAS Q61R mutation in patients... DisGeNET Detail
BRAF mutation was present in 65% of 94 DTC and p.Q61R NRAS in one. DisGeNET Detail
NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carcinoma (28%), and was ... DisGeNET Detail
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of ... DisGeNET Detail
Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... DisGeNET Detail
Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... DisGeNET Detail
NRAS mutation was observed in follicular carcinoma (50%) and in anaplastic carcinoma (28%), and was ... DisGeNET Detail
These senescence phenotypes were p16(INK4A)- or p53-independent, however, several of them were suppr... DisGeNET Detail
Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... DisGeNET Detail
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of ... DisGeNET Detail
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of ... DisGeNET Detail
NA DisGeNET Detail
We have evaluated five real-time ARMS assays: BRAF 1799T&gt;A, [this includes V600E and V600K] and N... DisGeNET Detail
Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... DisGeNET Detail
Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... DisGeNET Detail
Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NRAS mutation was observed in six cases (6%), all in histological types other than papillary carcino... DisGeNET Detail
NA DisGeNET Detail
We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors... DisGeNET Detail
To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed, under a constitutiv... DisGeNET Detail
To evaluate the latter possibility, a mutated NRAS(Q61R) oncogene was expressed, under a constitutiv... DisGeNET Detail
We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors... DisGeNET Detail
Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we id... DisGeNET Detail
Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is ... DisGeNET Detail
Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas from the NHS cohort w... DisGeNET Detail
Somatic BRAF(V600E) and NRAS(Q61R) mutations of 127 primary invasive melanomas from the NHS cohort w... DisGeNET Detail
Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of ... DisGeNET Detail
Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we id... DisGeNET Detail
Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is ... 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
rs11554290 dbSNP
Genome
hg38
Position
chr1:114,713,908-114,713,908
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
Q61R
Transcript 1 (CIViC Variant)
ENST00000369535.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/96
Summary (CIViC Variant)
NRAS Q61 mutations have been found in multiple myeloma, gastrointestinal stromal tumors, melanoma, and others. A melanoma patient harboring a mutation at this locus responded to treatment with the akylating agent temozolomide. However, in colorectal cancer patients, mutations at this locus have been shown to confer resistance to cetuximab. The prognostic impact of mutations at this locus is currently under study.
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