ClinVar Genomic variation as it relates to human health
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
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
The aggregate oncogenicity classification for this variant for one or more tumor types, using the ClinGen/CGC/VICC terminology. 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 oncogenicity 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.
Variant Details
- Identifiers
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NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
Variation ID: 12583 Accession: VCV000012583.55
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 12p12.1 12: 25245350 (GRCh38) [ NCBI UCSC ] 12: 25398284 (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 Apr 4, 2013 Aug 4, 2024 Oct 13, 2023 Somatic - Oncogenicity Aug 11, 2024 Aug 11, 2024 Jul 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004985.5:c.35G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004976.2:p.Gly12Val missense NM_033360.4:c.35G>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_203524.1:p.Gly12Val missense NM_001369786.1:c.35G>T NP_001356715.1:p.Gly12Val missense NM_001369787.1:c.35G>T NP_001356716.1:p.Gly12Val missense NC_000012.12:g.25245350C>A NC_000012.11:g.25398284C>A NG_007524.2:g.10654G>T LRG_344:g.10654G>T LRG_344t1:c.35G>T LRG_344p1:p.Gly12Val LRG_344t2:c.35G>T LRG_344p2:p.Gly12Val P01116:p.Gly12Val - Protein change
- G12V
- Other names
- p.G12V:GGT>GTT
- NP_004976.2:p.Gly12Val
- Canonical SPDI
- NC_000012.12:25245349:C:A
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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.
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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
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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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KRAS | No evidence available | No evidence available |
GRCh38 GRCh37 |
463 | 520 |
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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Jun 10, 2012 | RCV000013413.7 | |
Pathogenic (2) |
no assertion criteria provided
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Oct 25, 2012 | RCV000029216.7 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 15, 2018 | RCV000150895.6 | |
Pathogenic (2) |
criteria provided, single submitter
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Feb 15, 2018 | RCV000154262.8 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Dec 1, 2022 | RCV000157944.24 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 2, 2014 | RCV000417765.3 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 2, 2014 | RCV000428010.3 | |
Likely pathogenic (1) |
no assertion criteria provided
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Oct 2, 2014 | RCV000439750.3 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 14, 2015 | RCV000439101.3 | |
Pathogenic (2) |
no assertion criteria provided
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Mar 6, 2018 | RCV000585801.4 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 10, 2022 | RCV002291496.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 22, 2023 | RCV003455987.2 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV003322589.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 13, 2023 | RCV003539760.1 | |
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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
(Feb 15, 2018)
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criteria provided, single submitter
Method: clinical testing
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Non-small cell lung carcinoma
(Somatic mutation)
Affected status: not provided
Allele origin:
somatic
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000203917.2
First in ClinVar: Jan 31, 2015 Last updated: Jan 31, 2015 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Number of individuals with the variant: 96
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Pathogenic
(Feb 15, 2018)
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criteria provided, single submitter
Method: clinical testing
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Juvenile myelomonocytic leukemia
(Somatic mutation)
Affected status: not provided
Allele origin:
somatic
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000198477.2
First in ClinVar: Jan 31, 2015 Last updated: Jan 31, 2015 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Number of individuals with the variant: 96
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Pathogenic
(Oct 13, 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: SCV004295856.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 12 of the KRAS protein (p.Gly12Val). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 12 of the KRAS protein (p.Gly12Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 12583). 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 KRAS protein function. Experimental studies have shown that this missense change affects KRAS function (PMID: 20949621, 21044336). This variant disrupts the p.Gly12 amino acid residue in KRAS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17704260, 26242988). 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 01, 2022)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001746133.18
First in ClinVar: Jul 10, 2021 Last updated: Aug 04, 2024 |
Number of individuals with the variant: 2
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Pathogenic
(Jan 25, 2020)
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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: SCV000207879.9
First in ClinVar: Feb 24, 2015 Last updated: May 29, 2016 |
Comment:
Observed as a somatic variant in intracranial AVM specimens and sebaceous nevi (Goss et al., 2019; Groesser et al., 2012; Levinsohn et al., 2013); Observed … (more)
Observed as a somatic variant in intracranial AVM specimens and sebaceous nevi (Goss et al., 2019; Groesser et al., 2012; Levinsohn et al., 2013); Observed as a presumably somatic variant associated with malignancies including non-small cell lung cancer, pancreatic carcinoma, and ovarian carcinoma (Doebele et al., 2012; Motojima et al., 1993); Auner et al., 2009); Published functional studies demonstrated that G12V impaired function and enhanced downstream signaling (Gremer et al., 2011); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 15696205, 22669205, 21169357, 17384584, 2278970, 21975775, 25157968, 24803665, 23096712, 19047918, 19018267, 18316791, 17704260, 16618717, 19679400, 19075190, 29298116, 22897852, 22407852, 21398618, 21228335, 20609353, 19881948, 20949621, 31891627, 26372703, 22683711, 22235099, 8439212, 19358724) (less)
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Pathogenic
(Sep 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Linear nevus sebaceous syndrome
Affected status: yes
Allele origin:
somatic
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Clinical Genomics Laboratory, Washington University in St. Louis
Accession: SCV004176921.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
The KRAS c.35G>T (p.Gly12Val) variant was identified at an allelic fraction consistent with somatic origin. It has been identified in individuals with Schimmelpenning-Feuerstein-Mims syndrome and … (more)
The KRAS c.35G>T (p.Gly12Val) variant was identified at an allelic fraction consistent with somatic origin. It has been identified in individuals with Schimmelpenning-Feuerstein-Mims syndrome and arteriovenous malformation caused by somatic pathogenic variants (Groesser L et al., PMID: 22683711; Serio VB et al., PMID: 35807022; Palmieri M et al., PMID: 34617046; Ten Broek RW et al., PMID: 30677207; Al-Olabi L et al., PMID: 29461977). This variant has been reported in the ClinVar database as pathogenic by eight submitters (ClinVar ID: 12583) in both a germline and a somatic state. It also has been reported in 11,239 cases in the cancer database (COSMIC ID: COSV55497419). KRAS c.35G>T (p.Gly12Val) is absent from the general population (gnomAD v.3.1.2), indicating it is not a common variant. This variant resides within the switch I region, amino acids 32-40, of KRAS that is defined as a critical functional domain (Pacold ME et al., PMID: 11136978). Computational predictors indicate that the variant is damaging, evidence that correlates with impact to KRAS function. The KRAS gene is defined by ClinGen’s RASopathy Expert Panel as a gene that has a low rate of benign missense variation and where pathogenic missense variants are a common mechanism of disease (Gelb BD et al., PMID: 2949358). Functional studies using animals show that this variant induces vascular malformation phenotypes similar to observed in humans (Fish JE et al., PMID: 32552404). Other variants in the same codon, c.35G>A (p.Gly12Asp) have been reported in individuals with Schimmelpenning-Feuerstein-Mims syndrome and nevus sebaceous and are considered pathogenic (Mitchell BJ et al., PMID: 30394973; Levinsohn JL et al., PMID: 23096712; ClinVar ID: 12582). Based on an internally-developed protocol informed by the ACMG/AMP guidelines (Richards S et al., PMID: 25741868) and gene-specific practices from the ClinGen Criteria Specification Registry, KRAS c.35G>T (p.Gly12Val) variant is classified as pathogenic. (less)
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Pathogenic
(Oct 25, 2012)
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no assertion criteria provided
Method: literature only
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Nevus sebaceous
Affected status: yes
Allele origin:
somatic
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Yale Center for Mendelian Genomics, Yale University
Accession: SCV000611561.1
First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
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Pathogenic
(Jun 10, 2012)
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no assertion criteria provided
Method: literature only
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PANCREATIC CARCINOMA, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000033660.2
First in ClinVar: Apr 04, 2013 Last updated: Jul 28, 2019 |
Comment on evidence:
Pancreatic Carcinoma, Somatic For discussion of the gly12-to-val (G12V) substitution that was found in 1 of 53 pancreatic carcinomas (260350) by Motojima et al. (1993), … (more)
Pancreatic Carcinoma, Somatic For discussion of the gly12-to-val (G12V) substitution that was found in 1 of 53 pancreatic carcinomas (260350) by Motojima et al. (1993), see 190070.0005. Nevus Sebaceous, Somatic Groesser et al. (2012) identified a somatic G12V mutation in 1 (2%) of 65 nevus sebaceous tumors (see 162900). The tumor also carried a somatic mutation in the HRAS gene (G13R; 190020.0017). (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: research
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Cerebral arteriovenous malformation
Affected status: yes
Allele origin:
somatic
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Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School
Accession: SCV000992586.1
First in ClinVar: Dec 16, 2019 Last updated: Dec 16, 2019 |
Observation 1:
Number of individuals with the variant: 1
Age: 10-19 years
Sex: female
Observation 2:
Number of individuals with the variant: 1
Age: 10-19 years
Sex: female
Observation 3:
Number of individuals with the variant: 1
Age: 20-29 years
Sex: male
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553731.2 First in ClinVar: Apr 13, 2021 Last updated: Nov 29, 2022 |
Number of individuals with the variant: 97
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Lung sarcomatoid carcinoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Salgia Laboratory, City of Hope
Accession: SCV003804201.1
First in ClinVar: Aug 26, 2023 Last updated: Aug 26, 2023 |
Indication for testing: Stage IV lung cancer
Age: 70-79 years
Sex: male
Ethnicity/Population group: Caucasian
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Pathogenic
(Oct 02, 2014)
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no assertion criteria provided
Method: literature only
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Ovarian neoplasm
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000504473.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(Oct 02, 2014)
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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: SCV000504471.1
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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Thyroid tumor
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Database of Curated Mutations (DoCM)
Accession: SCV000504472.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Likely pathogenic
(Mar 10, 2016)
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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: SCV000504475.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Jul 14, 2015)
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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: SCV000504474.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Mar 06, 2018)
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no assertion criteria provided
Method: literature only
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ARTERIOVENOUS MALFORMATION OF THE BRAIN, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000693724.1
First in ClinVar: Mar 14, 2018 Last updated: Mar 14, 2018 |
Comment on evidence:
Using exome DNA sequencing and droplet digital PCR analysis, Nikolaev et al. (2018) identified a gly12-to-val (G12D, c.35G-T) mutation in a total of 13 of … (more)
Using exome DNA sequencing and droplet digital PCR analysis, Nikolaev et al. (2018) identified a gly12-to-val (G12D, c.35G-T) mutation in a total of 13 of 72 arteriovenous malformations of the brain (BAVM; 108010), and in none of 21 paired blood samples. Patient samples included 39 from a main study group and 33 from an independent validation group. This and the G12D variant (190070.0025) were present in 2.4 to 4.0% of the sequence reads per sample. The G12V mutation drove MAPK-ERK activity in endothelial cells. (less)
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Pathogenic
(Jun 10, 2012)
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no assertion criteria provided
Method: literature only
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NEVUS SEBACEOUS, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000051862.2
First in ClinVar: Apr 04, 2013 Last updated: Jul 28, 2019 |
Comment on evidence:
Pancreatic Carcinoma, Somatic For discussion of the gly12-to-val (G12V) substitution that was found in 1 of 53 pancreatic carcinomas (260350) by Motojima et al. (1993), … (more)
Pancreatic Carcinoma, Somatic For discussion of the gly12-to-val (G12V) substitution that was found in 1 of 53 pancreatic carcinomas (260350) by Motojima et al. (1993), see 190070.0005. Nevus Sebaceous, Somatic Groesser et al. (2012) identified a somatic G12V mutation in 1 (2%) of 65 nevus sebaceous tumors (see 162900). The tumor also carried a somatic mutation in the HRAS gene (G13R; 190020.0017). (less)
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Pathogenic
(Oct 10, 2022)
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no assertion criteria provided
Method: clinical testing
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Chronic myelogenous leukemia, BCR-ABL1 positive
Affected status: yes
Allele origin:
somatic
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Druker Lab, Oregon Health and Sciences University
Accession: SCV002583834.1
First in ClinVar: Oct 22, 2022 Last updated: Oct 22, 2022 |
Tissue: Blood
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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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Somatic mutations in intracranial arteriovenous malformations. | Goss JA | PloS one | 2019 | PMID: 31891627 |
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. | Nikolaev SI | The New England journal of medicine | 2018 | PMID: 29298116 |
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. | Joyce S | European journal of human genetics : EJHG | 2016 | PMID: 26242988 |
Prognostic value of the KRAS G12V mutation in 841 surgically resected Caucasian lung adenocarcinoma cases. | Renaud S | British journal of cancer | 2015 | PMID: 26372703 |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | MacConaill LE | The Journal of molecular diagnostics : JMD | 2014 | PMID: 25157968 |
Across the universe of K-RAS mutations in non-small-cell-lung cancer. | Piva S | Current pharmaceutical design | 2014 | PMID: 24138715 |
Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. | Ho AL | The New England journal of medicine | 2013 | PMID: 23406027 |
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. | Levinsohn JL | The Journal of investigative dermatology | 2013 | PMID: 23096712 |
Therapeutic effect of γ-secretase inhibition in KrasG12V-driven non-small cell lung carcinoma by derepression of DUSP1 and inhibition of ERK. | Maraver A | Cancer cell | 2012 | PMID: 22897852 |
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. | Groesser L | Nature genetics | 2012 | PMID: 22683711 |
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 |
Mechanisms of resistance to crizotinib in patients with ALK gene rearranged non-small cell lung cancer. | Doebele RC | Clinical cancer research : an official journal of the American Association for Cancer Research | 2012 | PMID: 22235099 |
Epidermal growth factor receptor blockers for the treatment of ovarian cancer. | Haldar K | The Cochrane database of systematic reviews | 2011 | PMID: 21975775 |
Effect of simvastatin on cetuximab resistance in human colorectal cancer with KRAS mutations. | Lee J | Journal of the National Cancer Institute | 2011 | PMID: 21398618 |
Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study. | Bokemeyer C | Annals of oncology : official journal of the European Society for Medical Oncology | 2011 | PMID: 21228335 |
KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways. | Fatrai S | The Journal of biological chemistry | 2011 | PMID: 21169357 |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | Gremer L | Human mutation | 2011 | PMID: 20949621 |
TLN-4601 suppresses growth and induces apoptosis of pancreatic carcinoma cells through inhibition of Ras-ERK MAPK signaling. | Campbell PM | Journal of molecular signaling | 2010 | PMID: 21044336 |
Randomized, phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study. | Douillard JY | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2010 | PMID: 20921465 |
Randomized phase III study of panitumumab with fluorouracil, leucovorin, and irinotecan (FOLFIRI) compared with FOLFIRI alone as second-line treatment in patients with metastatic colorectal cancer. | Peeters M | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2010 | PMID: 20921462 |
A synthetic lethal interaction between K-Ras oncogenes and Cdk4 unveils a therapeutic strategy for non-small cell lung carcinoma. | Puyol M | Cancer cell | 2010 | PMID: 20609353 |
BRAF(V600E) efficient transformation and induction of microsatellite instability versus KRAS(G12V) induction of senescence markers in human colon cancer cells. | Oikonomou E | Neoplasia (New York, N.Y.) | 2009 | PMID: 19881948 |
Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. | Hoftijzer H | European journal of endocrinology | 2009 | PMID: 19773371 |
Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. | Neumann J | Pathology, research and practice | 2009 | PMID: 19679400 |
KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. | Auner V | BMC cancer | 2009 | PMID: 19358724 |
KRAS mutations in non-small cell lung cancer. | Riely GJ | Proceedings of the American Thoracic Society | 2009 | PMID: 19349489 |
Phase II trial of sorafenib in metastatic thyroid cancer. | Kloos RT | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2009 | PMID: 19255327 |
Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. | Bokemeyer C | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2009 | PMID: 19114683 |
High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. | Tyner JW | Blood | 2009 | PMID: 19075190 |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. | Yoshida N | Pediatric research | 2009 | PMID: 19047918 |
KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. | Nakayama N | British journal of cancer | 2008 | PMID: 19018267 |
Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. | Amado RG | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18316791 |
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. | Nava C | Journal of medical genetics | 2007 | PMID: 17704260 |
Hyperactive Ras in developmental disorders and cancer. | Schubbert S | Nature reviews. Cancer | 2007 | PMID: 17384584 |
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | Matsuda K | Blood | 2007 | PMID: 17332249 |
KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. | Lièvre A | Cancer research | 2006 | PMID: 16618717 |
Implications of NRAS mutations in AML: a study of 2502 patients. | Bacher U | Blood | 2006 | PMID: 16434492 |
Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma. | Rothenberg ML | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2005 | PMID: 16361624 |
KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. | Pao W | PLoS medicine | 2005 | PMID: 15696205 |
Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma. | Motojima K | Annals of surgery | 1993 | PMID: 8439212 |
RAS gene mutations in childhood acute myeloid leukemia: a Pediatric Oncology Group study. | Vogelstein B | Genes, chromosomes & cancer | 1990 | PMID: 2278970 |
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/ENST00000256078:c.35G>T | - | - | - | - |
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Conditions - Somatic
Tumor type
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The tumor type for this variant-condition (RCV) record in ClinVar. |
Clinical impact (# of submissions)
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The aggregate somatic clinical impact for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate somatic clinical impact is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status. |
Oncogenicity
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The aggregate oncogenicity classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate oncogenicity classification is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the tumor type. |
Variation/condition record
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The most recent date that a submitter evaluated this variant for the tumor type. |
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Oncogenic
criteria provided, single submitter
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Jul 31, 2024 | RCV004668725.1 |
Submissions - Somatic
Oncogenicity
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The submitted oncogenicity classification for each SCV record. (Last evaluated) |
Review Status
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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. |
Tumor type
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The tumor type 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
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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
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This column includes more information supporting the somatic clinical impact, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Oncogenic
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Neoplasm
Affected status: unknown
Allele origin:
somatic
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV005094259.1
First In ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
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Citations for somatic classification of this variant
HelpThere are no citations for somatic classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs121913529 ...
HelpRecord last updated Aug 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.