ClinVar Genomic variation as it relates to human health
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
Variation ID: 39648 Accession: VCV000039648.19
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p13.2 1: 114716126 (GRCh38) [ NCBI UCSC ] 1: 115258747 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 22, 2014 Feb 20, 2024 Oct 12, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002524.5:c.35G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002515.1:p.Gly12Asp missense NC_000001.11:g.114716126C>T NC_000001.10:g.115258747C>T NG_007572.1:g.5769G>A LRG_92:g.5769G>A LRG_92t1:c.35G>A P01111:p.Gly12Asp - Protein change
- G12D
- Other names
- p.G12D:GGT>GAT
- Canonical SPDI
- NC_000001.11:114716125:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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NRAS | - | - |
GRCh38 GRCh37 |
283 | 305 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
no assertion criteria provided
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Dec 5, 2013 | RCV000032849.7 | |
Pathogenic (1) |
no assertion criteria provided
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Dec 5, 2013 | RCV000144963.3 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Dec 16, 2021 | RCV000158980.5 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000430706.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000424239.1 | |
Pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000427949.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000434517.1 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 2, 2014 | RCV000439064.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000440963.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000417702.1 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 2, 2014 | RCV000417869.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000436228.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 12, 2023 | RCV001852659.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 26, 2021 | RCV001781333.3 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Dec 1, 2019 | RCV001813214.3 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV003221788.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 13, 2022 | RCV003415756.4 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Dec 16, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000208919.13
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Published functional studies suggest the variant promotes oncogenesis/leukemogenesis (Haigis et al., 2008; Wang et al., 2011; Wang et al., 2013); In silico analysis supports that … (more)
Published functional studies suggest the variant promotes oncogenesis/leukemogenesis (Haigis et al., 2008; Wang et al., 2011; Wang et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 21586752, 23687087, 26090869, 22753870, 15517309, 23303902, 31031743, 28594414, 14982869, 18372904) (less)
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Pathogenic
(Sep 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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NRAS-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004114058.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The NRAS c.35G>A variant is predicted to result in the amino acid substitution p.Gly12Asp. This variant has been reported in individuals with Noonan syndrome and … (more)
The NRAS c.35G>A variant is predicted to result in the amino acid substitution p.Gly12Asp. This variant has been reported in individuals with Noonan syndrome and has been reported as a somatic variant in different types of cancers (van 't Veer et al. 1989. PubMed ID: 2674680; Matsuda et al. 2007. PubMed ID: 17332249; Mardis et al 2009. PubMed ID: 19657110; Hafner et al. 2012. PubMed ID: 22499344; MacConaill et al. 2014. PubMed ID: 25157968; Chang et al. 2015. PubMed ID: 26619011; Altmüller et al. 2017. PubMed ID: 28594414; Cifaldi et al. 2019. PubMed ID: 31031743). In ClinVar, this variant is interpreted as likely pathogenic and pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/39648/). This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-115258747-C-T). This variant is interpreted as pathogenic. (less)
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Likely pathogenic
(Dec 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome and Noonan-related syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002060959.1
First in ClinVar: Jan 20, 2022 Last updated: Jan 20, 2022 |
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Pathogenic
(Mar 26, 2021)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 6
Affected status: unknown
Allele origin:
de novo
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New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV002099145.1 First in ClinVar: Feb 26, 2022 Last updated: Feb 26, 2022 |
Comment:
The de novo heterozygous c.35G>A (p.Gly12Asp) variant identified in the NRAS gene is a known disease-causing variant and has been reported in ClinVar a Pathogenic … (more)
The de novo heterozygous c.35G>A (p.Gly12Asp) variant identified in the NRAS gene is a known disease-causing variant and has been reported in ClinVar a Pathogenic by multiple independent laboratories [Variation ID:39648]. Other missense variants affecting the same residue Gly12 have been reported as somatic variants in different types of cancers. The c.35G>A (p.Gly12Asp) variant identified in this individual has been reported as a somatic variant in different types of cancers [ClinVar Variation ID:39648], as well as a de novo germline variant in a patient with Noonan syndrome [for detailed clinical description see Patient# 13 in PMID: 28594414]. The variant has 0.00001314 allele frequency in the gnomAD(v3) database (2 out of 152154 heterozygous alleles, no homozygotes) suggesting it is not a common benign allele in the populations represented in that database. The variant affects a highly conserved residue and is predicted deleterious by multiple in silico tools [CADD score = 24.3, REVEL score = 0.783]. Based on the available evidence, the de novo heterozygous c.35G>A (p.Gly12Asp) variant identified inthe NRAS gene is reported as Pathogenic. (less)
Clinical Features:
Seizure (present) , Intellectual disability (present) , Delayed speech and language development (present) , Global developmental delay (present)
Secondary finding: no
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Pathogenic
(Jul 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002501750.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Autoimmune lymphoproliferative syndrome type 4
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Lifecell International Pvt. Ltd
Accession: SCV003915935.1
First in ClinVar: Apr 23, 2023 Last updated: Apr 23, 2023 |
Comment:
A Heterozygous Missense variant c.35G>A in Exon 2 of the NRAS gene that results in the amino acid substitution p.Gly12Asp was identified. The observed variant … (more)
A Heterozygous Missense variant c.35G>A in Exon 2 of the NRAS gene that results in the amino acid substitution p.Gly12Asp was identified. The observed variant is novel in gnomAD exomes and genomes, respectively. The severity of the impact of this variant on the protein is medium, based on the effect of the protein and REVEL score. Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Pathogenic/Likely Pathogenic [Variation ID: 39648]. The observed variation has been previously reported for primary melanoma of the CNS in children [Pedersen M, et.al, 2013]. Published functional studies suggests that the variant promotes oncogenesis/leukemogenesis [Wang et al., 2011]. For these reasons, this variant has been classified as Pathogenic. (less)
Ethnicity/Population group: Asian
Geographic origin: India
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Pathogenic
(Oct 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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RASopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV002236351.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 12 of the NRAS protein … (more)
This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 12 of the NRAS protein (p.Gly12Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with Noonan syndrome (PMID: 28594414). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 39648). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NRAS protein function. This variant disrupts the p.Gly12 amino acid residue in NRAS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28098151, 28594414). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Dec 05, 2013)
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no assertion criteria provided
Method: literature only
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EPIDERMAL NEVUS, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000056618.4
First in ClinVar: Apr 04, 2013 Last updated: Nov 22, 2014 |
Comment on evidence:
Hafner et al. (2012) identified a somatic gly12-to-asp (G12D) mutation in the NRAS gene in 1 of 72 keratinocytic epidermal nevi (162900). In white blood … (more)
Hafner et al. (2012) identified a somatic gly12-to-asp (G12D) mutation in the NRAS gene in 1 of 72 keratinocytic epidermal nevi (162900). In white blood cells derived from 2 unrelated children with juvenile myelomonocytic leukemia (JMML; 607785), Matsuda et al. (2007) identified a somatic heterozygous G-to-A transition in the NRAS gene, resulting in a gly12-to-asp (G12D) substitution. Li et al. (2013) showed that a single allele of oncogenic Nras(G12D) increases hematopoietic stem cell (HSC) proliferation and also increases reconstituting and self-renewal potential upon serial transplantation in irradiated mice, all prior to leukemia initiation. Nras(G12D) also confers long-term self-renewal potential to multipotent progenitors. Li et al. (2013) found that Nras(G12D) had a bimodal effect on HSCs, increasing the frequency with which some HSCs divide and reducing the frequency with which others divide. This mirrored bimodal effects on reconstituting potential, as rarely dividing Nras(G12D) HSCs outcompeted wildtype HSCs, whereas frequently dividing Nras(G12D) HSCs did not. Nras(G12D) caused these effects by promoting STAT5 (601511) signaling, inducing different transcriptional responses in different subsets of HSCs. Li et al. (2013) concluded that 1 signal can therefore increase HSC proliferation, competitiveness, and self-renewal through bimodal effects on HSC gene expression, cycling, and reconstituting potential. (less)
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Pathogenic
(Dec 05, 2013)
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no assertion criteria provided
Method: literature only
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JUVENILE MYELOMONOCYTIC LEUKEMIA, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000191990.1
First in ClinVar: Nov 22, 2014 Last updated: Nov 22, 2014 |
Comment on evidence:
Hafner et al. (2012) identified a somatic gly12-to-asp (G12D) mutation in the NRAS gene in 1 of 72 keratinocytic epidermal nevi (162900). In white blood … (more)
Hafner et al. (2012) identified a somatic gly12-to-asp (G12D) mutation in the NRAS gene in 1 of 72 keratinocytic epidermal nevi (162900). In white blood cells derived from 2 unrelated children with juvenile myelomonocytic leukemia (JMML; 607785), Matsuda et al. (2007) identified a somatic heterozygous G-to-A transition in the NRAS gene, resulting in a gly12-to-asp (G12D) substitution. Li et al. (2013) showed that a single allele of oncogenic Nras(G12D) increases hematopoietic stem cell (HSC) proliferation and also increases reconstituting and self-renewal potential upon serial transplantation in irradiated mice, all prior to leukemia initiation. Nras(G12D) also confers long-term self-renewal potential to multipotent progenitors. Li et al. (2013) found that Nras(G12D) had a bimodal effect on HSCs, increasing the frequency with which some HSCs divide and reducing the frequency with which others divide. This mirrored bimodal effects on reconstituting potential, as rarely dividing Nras(G12D) HSCs outcompeted wildtype HSCs, whereas frequently dividing Nras(G12D) HSCs did not. Nras(G12D) caused these effects by promoting STAT5 (601511) signaling, inducing different transcriptional responses in different subsets of HSCs. Li et al. (2013) concluded that 1 signal can therefore increase HSC proliferation, competitiveness, and self-renewal through bimodal effects on HSC gene expression, cycling, and reconstituting potential. (less)
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Acute myeloid leukemia
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503718.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Multiple myeloma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503719.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503720.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Oct 02, 2014)
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no assertion criteria provided
Method: literature only
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Non-small cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503721.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Oct 02, 2014)
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no assertion criteria provided
Method: literature only
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Melanoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503722.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Malignant neoplasm of body of uterus
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503723.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Myelodysplastic syndrome
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503725.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Gastric adenocarcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503726.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(May 31, 2016)
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no assertion criteria provided
Method: literature only
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Malignant melanoma of skin
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503724.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Genotype and phenotype spectrum of NRAS germline variants. | Altmüller F | European journal of human genetics : EJHG | 2017 | PMID: 28594414 |
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. | Mason-Suares H | European journal of human genetics : EJHG | 2017 | PMID: 28098151 |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | Chang MT | Nature biotechnology | 2016 | PMID: 26619011 |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | MacConaill LE | The Journal of molecular diagnostics : JMD | 2014 | PMID: 25157968 |
Oncogenic Nras has bimodal effects on stem cells that sustainably increase competitiveness. | Li Q | Nature | 2013 | PMID: 24284627 |
Characteristics of lung cancers harboring NRAS mutations. | Ohashi K | Clinical cancer research : an official journal of the American Association for Cancer Research | 2013 | PMID: 23515407 |
MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. | Ascierto PA | The Lancet. Oncology | 2013 | PMID: 23414587 |
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. | Hafner C | Journal of medical genetics | 2012 | PMID: 22499344 |
RAS mutations are frequent in FAB type M4 and M5 of acute myeloid leukemia, and related to late relapse: a study of the Japanese Childhood AML Cooperative Study Group. | Sano H | International journal of hematology | 2012 | PMID: 22407852 |
Inhibiting the palmitoylation/depalmitoylation cycle selectively reduces the growth of hematopoietic cells expressing oncogenic Nras. | Xu J | Blood | 2012 | PMID: 22144181 |
PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. | Janku F | PloS one | 2011 | PMID: 21829508 |
Development of molecular biomarkers in individualized treatment of colorectal cancer. | De Mattos-Arruda L | Clinical colorectal cancer | 2011 | PMID: 21729679 |
Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer. | Vaughn CP | Genes, chromosomes & cancer | 2011 | PMID: 21305640 |
NRAS mutations are rare in colorectal cancer. | Irahara N | Diagnostic molecular pathology : the American journal of surgical pathology, part B | 2010 | PMID: 20736745 |
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. | De Roock W | The Lancet. Oncology | 2010 | PMID: 20619739 |
RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. | Poulikakos PI | Nature | 2010 | PMID: 20179705 |
RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. | Hatzivassiliou G | Nature | 2010 | PMID: 20130576 |
Recurring mutations found by sequencing an acute myeloid leukemia genome. | Mardis ER | The New England journal of medicine | 2009 | PMID: 19657110 |
High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. | Tyner JW | Blood | 2009 | PMID: 19075190 |
Somatic mutations affect key pathways in lung adenocarcinoma. | Ding L | Nature | 2008 | PMID: 18948947 |
Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. | Adjei AA | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18390968 |
AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. | Davies BR | Molecular cancer therapeutics | 2007 | PMID: 17699718 |
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | Matsuda K | Blood | 2007 | PMID: 17332249 |
Implications of NRAS mutations in AML: a study of 2502 patients. | Bacher U | Blood | 2006 | PMID: 16434492 |
BRAF mutation predicts sensitivity to MEK inhibition. | Solit DB | Nature | 2006 | PMID: 16273091 |
Distinct sets of genetic alterations in melanoma. | Curtin JA | The New England journal of medicine | 2005 | PMID: 16291983 |
BRAF and RAS mutations in human lung cancer and melanoma. | Brose MS | Cancer research | 2002 | PMID: 12460918 |
Ras mutations in human melanoma: a marker of malignant progression. | Ball NJ | The Journal of investigative dermatology | 1994 | PMID: 8120410 |
RAS gene mutations in childhood acute myeloid leukemia: a Pediatric Oncology Group study. | Vogelstein B | Genes, chromosomes & cancer | 1990 | PMID: 2278970 |
N-ras mutations in human cutaneous melanoma from sun-exposed body sites. | van 't Veer LJ | Molecular and cellular biology | 1989 | PMID: 2674680 |
RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes. | Janssen JW | Proceedings of the National Academy of Sciences of the United States of America | 1987 | PMID: 3122217 |
http://docm.genome.wustl.edu/variants/ENST00000369535:c.35G>A | - | - | - | - |
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Text-mined citations for rs121913237 ...
HelpRecord last updated Mar 11, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.