Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
14 (Most recent: Jul 4, 2021)
Last evaluated:
Feb 1, 2020
Accession:
VCV000012580.11
Variation ID:
12580
Description:
single nucleotide variant
Help

NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)

Allele ID
27619
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 25245347 (GRCh38) GRCh38 UCSC
12: 25398281 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.25398281C>T
NC_000012.12:g.25245347C>T
NM_004985.5:c.38G>A MANE Select NP_004976.2:p.Gly13Asp missense
... more HGVS
Protein change
G13D
Other names
-
Canonical SPDI
NC_000012.12:25245346:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA122534
UniProtKB: P01116#VAR_016029
OMIM: 190070.0003
dbSNP: rs112445441
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Nov 2, 2011 RCV000038269.3
Pathogenic 2 criteria provided, single submitter Feb 1, 2020 RCV001092389.3
Pathogenic 1 criteria provided, single submitter Jul 19, 2018 RCV001266168.1
Pathogenic 1 criteria provided, single submitter - RCV001526657.1
Pathogenic 1 no assertion criteria provided Jul 1, 2015 RCV000013409.8
Pathogenic 1 no assertion criteria provided Jul 1, 2015 RCV000144967.6
Pathogenic 1 no assertion criteria provided Jul 1, 2015 RCV000144968.6
Pathogenic 1 no assertion criteria provided Mar 10, 2016 RCV000421576.1
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000427102.1
Likely pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000431806.1
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000444192.1
OCULOECTODERMAL SYNDROME, SOMATIC
Pathogenic 1 no assertion criteria provided Jul 1, 2015 RCV000791297.1

Clinical features observed in individuals with this variant

Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KRAS No evidence available No evidence available GRCh38
GRCh37
295 326

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 02, 2011)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061938.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001248878.5
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Jul 19, 2018)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV001444340.1
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (7)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Nevus sebaceous
Allele origin: somatic
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001737088.1
Submitted: (Jun 14, 2021)
Evidence details
Pathogenic
(Mar 10, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504458.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (16)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Acute myeloid leukemia
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504459.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (5)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Neoplasm of ovary
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504460.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Neoplasm of the thyroid gland
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504461.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (4)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Non-small cell lung cancer
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504462.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Jul 01, 2015)
no assertion criteria provided
Method: literature only
BREAST ADENOCARCINOMA, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000033656.4
Submitted: (Nov 11, 2015)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jul 01, 2015)
no assertion criteria provided
Method: literature only
JUVENILE MYELOMONOCYTIC LEUKEMIA, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000191994.3
Submitted: (Nov 11, 2015)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jul 01, 2015)
no assertion criteria provided
Method: literature only
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000191995.3
Submitted: (Nov 11, 2015)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jul 01, 2015)
no assertion criteria provided
Method: literature only
OCULOECTODERMAL SYNDROME, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000930607.1
Submitted: (Aug 01, 2019)
Evidence details
Publications
PubMed (4)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552665.1
Submitted: (Mar 31, 2021)
Evidence details

Functional evidence

Help
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 this variant

Help
Title Author Journal Year Link
Cetuximab treatment for metastatic colorectal cancer with KRAS p.G13D mutations improves progression-free survival. Osumi H Molecular and clinical oncology 2015 PMID: 26623049
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. Peacock JD American journal of medical genetics. Part A 2015 PMID: 25808193
Comparative analysis of KRAS codon 12, 13, 18, 61, and 117 mutations using human MCF10A isogenic cell lines. Stolze B Scientific reports 2015 PMID: 25705018
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
KRAS mutations: variable incidences in a Brazilian cohort of 8,234 metastatic colorectal cancer patients. Gil Ferreira C BMC gastroenterology 2014 PMID: 24720724
KRAS G13D Mutation and Sensitivity to Cetuximab or Panitumumab in a Colorectal Cancer Cell Line Model. Kumar SS Gastrointestinal cancer research : GCR 2014 PMID: 24558511
Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. Ho AL The New England journal of medicine 2013 PMID: 23406027
Mutant KRAS codon 12 and 13 alleles in patients with metastatic colorectal cancer: assessment as prognostic and predictive biomarkers of response to panitumumab. Peeters M Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2013 PMID: 23182985
Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. Tejpar S Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22734028
De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics. Ismael O British journal of haematology 2012 PMID: 22571758
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
Inhibition of MEK and PI3K/mTOR suppresses tumor growth but does not cause tumor regression in patient-derived xenografts of RAS-mutant colorectal carcinomas. Migliardi G Clinical cancer research : an official journal of the American Association for Cancer Research 2012 PMID: 22392911
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
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Takagi M Blood 2011 PMID: 21063026
Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. De Roock W JAMA 2010 PMID: 20978259
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
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
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
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
Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. Riely GJ Clinical cancer research : an official journal of the American Association for Cancer Research 2008 PMID: 18794081
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
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
BRAF and RAS mutations in human lung cancer and melanoma. Brose MS Cancer research 2002 PMID: 12460918
RAS gene mutations in childhood acute myeloid leukemia: a Pediatric Oncology Group study. Vogelstein B Genes, chromosomes & cancer 1990 PMID: 2278970
ras oncogenes in human cancer: a review. Bos JL Cancer research 1989 PMID: 2547513
The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231. Kozma SC Nucleic acids research 1987 PMID: 3627975
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.38G>A - - - -

Text-mined citations for rs112445441...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 27, 2021