ClinVar Genomic variation as it relates to human health
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
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
-
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
Variation ID: 13901 Accession: VCV000013901.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p13.2 1: 114716123 (GRCh38) [ NCBI UCSC ] 1: 115258744 (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 Feb 24, 2015 Jul 23, 2024 Jul 17, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002524.5:c.38G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002515.1:p.Gly13Asp missense NC_000001.11:g.114716123C>T NC_000001.10:g.115258744C>T NG_007572.1:g.5772G>A LRG_92:g.5772G>A LRG_92t1:c.38G>A LRG_92p1:p.Gly13Asp P01111:p.Gly13Asp - Protein change
- G13D
- Other names
- -
- Canonical SPDI
- NC_000001.11:114716122: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
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 |
286 | 310 |
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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Mar 10, 2011 | RCV000014915.26 | |
Pathogenic (2) |
criteria provided, single submitter
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Jul 17, 2023 | RCV000022690.28 | |
Likely pathogenic (2) |
criteria provided, single submitter
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Jan 3, 2023 | RCV000144962.4 | |
Pathogenic (2) |
criteria provided, single submitter
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Mar 30, 2015 | RCV000157672.3 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000430350.1 | |
Likely pathogenic (1) |
no assertion criteria provided
|
May 31, 2016 | RCV000433031.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000431528.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000421229.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000422699.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000440593.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000421906.1 | |
Pathogenic (1) |
no assertion criteria provided
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Mar 10, 2016 | RCV000431020.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000442419.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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May 31, 2016 | RCV000440357.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Sep 1, 2020 | RCV001293767.1 | |
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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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Pathogenic
(Mar 30, 2015)
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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: SCV000490967.2
First in ClinVar: Feb 24, 2015 Last updated: Feb 24, 2015 |
Comment:
The G13D variant has been reported as a de novo germline variant in association with autoimmune lymphoproliferative syndrome (ALPS) (Oliveira et al., 2007). In vitro … (more)
The G13D variant has been reported as a de novo germline variant in association with autoimmune lymphoproliferative syndrome (ALPS) (Oliveira et al., 2007). In vitro functional studies demonstrated that the presence of the G13D variant resulted in BCL-2-interacting mediator of cell death down-regulation and defective intrinsic mitochondrial apoptosis prominently in lymphocytes, leading to features of ALPS and hematopoietic malignancies (Oliveira et al., 2007). The G13D variant has also been reported as a germline variant in association with dysmorphic features and Juvenile Myelomonocytic Leukemia (JMML) (De Filippi et al., 2009). The G13D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. (less)
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Likely pathogenic
(Sep 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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Acute megakaryoblastic leukemia in down syndrome
Affected status: yes
Allele origin:
somatic
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV001480520.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
Number of individuals with the variant: 1
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Likely pathogenic
(Jan 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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Autoimmune lymphoproliferative syndrome type 4
Affected status: yes
Allele origin:
germline
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Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine
Accession: SCV003837579.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Jul 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 6
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV005086264.1
First in ClinVar: Jul 23, 2024 Last updated: Jul 23, 2024 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0101 - Gain of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0101 - Gain of function is a known mechanism of disease in this gene and is associated with NRAS-related conditions (OMIM). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0115 - Variants in this gene are known to have variable expressivity. Noonan syndrome, caused by germline variants in the NRAS gene, have variable expressivity (GeneReviews). (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to aspartic acid. (I) 0254 - This variant is low level mosaic in DNA extracted from snap frozen skin biopsy. (I) 0302 - Variant is present in gnomAD <0.001 for a dominant condition (v2: 1 heterozygote, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2: 1 heterozygote, 0 homozygotes). (I) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants (DECIPHER). (SP) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. It is one of the variants in this gene most commonly associated with juvenile myelomonocytic leukaemia (JMML) and it has also been reported in somatic tissue associated with other cancers (ClinVar, PMIDs: 17332249, 18375819, 36130886). In addition, it has been regarded as pathogenic in germline tissue (ClinVar) and has been reported de novo in one individual with JMML and features of Noonan syndrome (PMID: 19775298) and in another individual with autoimmune lymphoproliferative syndrome without features of Noonan syndrome (PMID: 17517660). 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Mar 10, 2016)
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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: SCV000503680.1
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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Acute myeloid leukemia
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000503681.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000503682.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000503683.1
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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Lymphoma, non-Hodgkin, familial
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503687.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000503689.1
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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Transitional cell carcinoma of the bladder
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503688.1
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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Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503684.1
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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Medulloblastoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503685.1
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
|
Database of Curated Mutations (DoCM)
Accession: SCV000503686.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Mar 10, 2011)
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no assertion criteria provided
Method: literature only
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NOONAN SYNDROME 6
Affected status: not provided
Allele origin:
unknown
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OMIM
Accession: SCV000043979.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 11, 2015 |
Comment on evidence:
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 … (more)
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 gly13-to-asp (G13D) substitution. Oliveira et al. (2007) identified a heterozygous G-to-A transition in the NRAS gene, resulting in a gly13-to-asp (G13D) substitution, in a 49-year-old patient with RAS-associated autoimmune leukoproliferative disorder (RALD; 614470). The patient had a lifelong overexpansion of lymphocytes and a history of childhood leukemia, and early adulthood lymphoma, both successfully treated. There were no developmental defects. Laboratory studies showed increased serum alpha/beta CD4-/CD8- T cells and lymph node follicular hyperplasia. There was no evidence of CD95 (134637)-mediated apoptosis, but the patient's lymphocytes resisted death by IL2 (147680) withdrawal, indicating a specific defect in lymphocyte apoptosis. Further studies of the patient's cells indicated a decrease of the proapoptotic protein BIM (BCL2L11; 603827), which is critical for withdrawal-induced mitochondrial apoptosis. The mutation was found in the patient's lymphoblasts, peripheral blood mononuclear cells, monocytes, EBV-transformed B cells, and buccal epithelial cells. It was not present in the patient's unaffected relatives, suggesting de novo occurrence. The patient had no developmental abnormalities or features of Noonan syndrome. Oliveira et al. (2007) noted that the same mutation had been identified somatically in myeloid and lymphoid malignancies (Bos et al., 1985; Lubbert et al., 1990). Niemela et al. (2010) stated that the NRAS mutation found by Oliveira et al. (2007) was a somatic mutation. De Filippi et al. (2009) identified a de novo germline heterozygous G13D substitution in the NRAS gene in a male infant who presented at age 2 months with juvenile myelomonocytic leukemia (JMML; 607785) and was later noted to have dysmorphic features suggestive of, but not diagnostic of, Noonan syndrome (NS6; 613224). Features included short stature, relative macrocephaly, high forehead, epicanthal folds, long eyebrows, low nasal bridge, low-set ears, 2 cafe-au-lait spots, and low scores on performance tasks. Cardiac studies were normal. There were no hematologic abnormalities related to RALD in this patient. (less)
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Pathogenic
(Mar 10, 2011)
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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
|
OMIM
Accession: SCV000035171.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 11, 2015 |
Comment on evidence:
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 … (more)
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 gly13-to-asp (G13D) substitution. Oliveira et al. (2007) identified a heterozygous G-to-A transition in the NRAS gene, resulting in a gly13-to-asp (G13D) substitution, in a 49-year-old patient with RAS-associated autoimmune leukoproliferative disorder (RALD; 614470). The patient had a lifelong overexpansion of lymphocytes and a history of childhood leukemia, and early adulthood lymphoma, both successfully treated. There were no developmental defects. Laboratory studies showed increased serum alpha/beta CD4-/CD8- T cells and lymph node follicular hyperplasia. There was no evidence of CD95 (134637)-mediated apoptosis, but the patient's lymphocytes resisted death by IL2 (147680) withdrawal, indicating a specific defect in lymphocyte apoptosis. Further studies of the patient's cells indicated a decrease of the proapoptotic protein BIM (BCL2L11; 603827), which is critical for withdrawal-induced mitochondrial apoptosis. The mutation was found in the patient's lymphoblasts, peripheral blood mononuclear cells, monocytes, EBV-transformed B cells, and buccal epithelial cells. It was not present in the patient's unaffected relatives, suggesting de novo occurrence. The patient had no developmental abnormalities or features of Noonan syndrome. Oliveira et al. (2007) noted that the same mutation had been identified somatically in myeloid and lymphoid malignancies (Bos et al., 1985; Lubbert et al., 1990). Niemela et al. (2010) stated that the NRAS mutation found by Oliveira et al. (2007) was a somatic mutation. De Filippi et al. (2009) identified a de novo germline heterozygous G13D substitution in the NRAS gene in a male infant who presented at age 2 months with juvenile myelomonocytic leukemia (JMML; 607785) and was later noted to have dysmorphic features suggestive of, but not diagnostic of, Noonan syndrome (NS6; 613224). Features included short stature, relative macrocephaly, high forehead, epicanthal folds, long eyebrows, low nasal bridge, low-set ears, 2 cafe-au-lait spots, and low scores on performance tasks. Cardiac studies were normal. There were no hematologic abnormalities related to RALD in this patient. (less)
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Pathogenic
(Mar 10, 2011)
|
no assertion criteria provided
Method: literature only
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RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, SOMATIC (1 patient)
Affected status: not provided
Allele origin:
somatic
|
OMIM
Accession: SCV000191989.2
First in ClinVar: Nov 22, 2014 Last updated: Oct 11, 2015 |
Comment on evidence:
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 … (more)
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 gly13-to-asp (G13D) substitution. Oliveira et al. (2007) identified a heterozygous G-to-A transition in the NRAS gene, resulting in a gly13-to-asp (G13D) substitution, in a 49-year-old patient with RAS-associated autoimmune leukoproliferative disorder (RALD; 614470). The patient had a lifelong overexpansion of lymphocytes and a history of childhood leukemia, and early adulthood lymphoma, both successfully treated. There were no developmental defects. Laboratory studies showed increased serum alpha/beta CD4-/CD8- T cells and lymph node follicular hyperplasia. There was no evidence of CD95 (134637)-mediated apoptosis, but the patient's lymphocytes resisted death by IL2 (147680) withdrawal, indicating a specific defect in lymphocyte apoptosis. Further studies of the patient's cells indicated a decrease of the proapoptotic protein BIM (BCL2L11; 603827), which is critical for withdrawal-induced mitochondrial apoptosis. The mutation was found in the patient's lymphoblasts, peripheral blood mononuclear cells, monocytes, EBV-transformed B cells, and buccal epithelial cells. It was not present in the patient's unaffected relatives, suggesting de novo occurrence. The patient had no developmental abnormalities or features of Noonan syndrome. Oliveira et al. (2007) noted that the same mutation had been identified somatically in myeloid and lymphoid malignancies (Bos et al., 1985; Lubbert et al., 1990). Niemela et al. (2010) stated that the NRAS mutation found by Oliveira et al. (2007) was a somatic mutation. De Filippi et al. (2009) identified a de novo germline heterozygous G13D substitution in the NRAS gene in a male infant who presented at age 2 months with juvenile myelomonocytic leukemia (JMML; 607785) and was later noted to have dysmorphic features suggestive of, but not diagnostic of, Noonan syndrome (NS6; 613224). Features included short stature, relative macrocephaly, high forehead, epicanthal folds, long eyebrows, low nasal bridge, low-set ears, 2 cafe-au-lait spots, and low scores on performance tasks. Cardiac studies were normal. There were no hematologic abnormalities related to RALD in this patient. (less)
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Pathogenic
(Jan 15, 2015)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV000207643.1
First in ClinVar: Feb 24, 2015 Last updated: Feb 24, 2015 |
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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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A Pathogenic NRAS c.38G>A (p.G13D) Mutation in RARA Translocation-negative Acute Promyelocytic-like Leukemia with Concomitant Myelodysplastic Syndrome. | Goto H | Internal medicine (Tokyo, Japan) | 2023 | PMID: 36130886 |
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 |
Combined targeting of MEK and PI3K/mTOR effector pathways is necessary to effectively inhibit NRAS mutant melanoma in vitro and in vivo. | Posch C | Proceedings of the National Academy of Sciences of the United States of America | 2013 | PMID: 23431193 |
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 |
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. | Niemela JE | Blood | 2011 | PMID: 21079152 |
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 |
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. | De Filippi P | British journal of haematology | 2009 | PMID: 19775298 |
Recurring mutations found by sequencing an acute myeloid leukemia genome. | Mardis ER | The New England journal of medicine | 2009 | PMID: 19657110 |
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 |
BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors. | Banerji U | Molecular cancer therapeutics | 2008 | PMID: 18375819 |
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. | Oliveira JB | Proceedings of the National Academy of Sciences of the United States of America | 2007 | PMID: 17517660 |
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | Matsuda K | Blood | 2007 | PMID: 17332249 |
Distinct sets of genetic alterations in melanoma. | Curtin JA | The New England journal of medicine | 2005 | PMID: 16291983 |
Ras mutations in human melanoma: a marker of malignant progression. | Ball NJ | The Journal of investigative dermatology | 1994 | PMID: 8120410 |
N-ras gene point mutations in childhood acute lymphocytic leukemia correlate with a poor prognosis. | Lübbert M | Blood | 1990 | PMID: 2407301 |
N-ras mutations in human cutaneous melanoma from sun-exposed body sites. | van 't Veer LJ | Molecular and cellular biology | 1989 | PMID: 2674680 |
Amino-acid substitutions at codon 13 of the N-ras oncogene in human acute myeloid leukaemia. | Bos JL | Nature | 1985 | PMID: 2989702 |
http://docm.genome.wustl.edu/variants/ENST00000369535:c.38G>A | - | - | - | - |
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Text-mined citations for rs121434596 ...
HelpRecord last updated Aug 04, 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.