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NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Mar 21, 2019)
Last evaluated:
Aug 28, 2014
Accession:
VCV000177777.1
Variation ID:
177777
Description:
single nucleotide variant
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NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)

Allele ID
175715
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 25227343 (GRCh38) GRCh38 UCSC
12: 25380277 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.25380277G>T
NC_000012.12:g.25227343G>T
NG_007524.1:g.28578C>A
... more HGVS
Protein change
Q61K
Other names
-
Canonical SPDI
NC_000012.12:25227342:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA180750
dbSNP: rs121913238
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Aug 28, 2014 RCV000154402.3
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000423236.1
Pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000440889.1
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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
299 330

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 28, 2014)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung carcinoma
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204069.3
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504451.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (9)
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: SCV000504452.1
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 carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504453.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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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

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Title Author Journal Year Link
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. Ho AL The New England journal of medicine 2013 PMID: 23406027
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
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
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
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
KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Lièvre A Cancer research 2006 PMID: 16618717
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
BRAF and RAS mutations in human lung cancer and melanoma. Brose MS Cancer research 2002 PMID: 12460918
http://docm.genome.wustl.edu/variants/ENST00000256078:c.181C>A - - - -

Text-mined citations for rs121913238...

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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 Nov 20, 2021