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NM_033360.4(KRAS):c.436G>A (p.Ala146Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Aug 1, 2019)
Last evaluated:
Jun 6, 2014
Accession:
VCV000197243.2
Variation ID:
197243
Description:
single nucleotide variant
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NM_033360.4(KRAS):c.436G>A (p.Ala146Thr)

Allele ID
194404
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 25225628 (GRCh38) GRCh38 UCSC
12: 25378562 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_344:g.30376G>A
P01116:p.Ala146Thr
LRG_344t1:c.436G>A LRG_344p1:p.Ala146Thr
... more HGVS
Protein change
A146T
Other names
-
Canonical SPDI
NC_000012.12:25225627:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA245262
UniProtKB: P01116#VAR_036308
OMIM: 190070.0027
dbSNP: rs121913527
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 6, 2014 RCV000178223.1
Pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000426420.1
OCULOECTODERMAL SYNDROME, SOMATIC
Pathogenic 1 no assertion criteria provided Nov 4, 2021 RCV000791298.2
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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
Uncertain significance
(Jun 06, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230243.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
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: SCV000504418.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (10)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Nov 04, 2021)
no assertion criteria provided
Method: literature only
OCULOECTODERMAL SYNDROME, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000930608.2
Submitted: (Aug 01, 2019)
Evidence details
Publications
PubMed (1)
Boppudi, S., Bogershausen, N.,  (more...)
Chacon-Camacho, O. F.,  (more...)

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
Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. Aslan D American journal of medical genetics. Part A 2014 PMID: 25251940
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
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
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
Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. Neumann J Pathology, research and practice 2009 PMID: 19679400
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
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
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
Boppudi, S., Bogershausen, N., Hove, H. B., Percin, E. F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P. B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M. R., Heindl, L. M., Zenker, M. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin. Genet. 90: 334-342, 2016. - - - -
Chacon-Camacho, O. F., Lopez-Moreno, D., Morales-Sanchez, M. A., Hofmann, E., Pacheco-Quito, M., Wieland, I., Cortes-Gonzalez, V., Villanueva-Mendoza, C., Zenker, M., Zenteno, J. C. Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. Molec. Genet. Genomic Med. 7: e625, 2019. Note: Electronic Article. - - - -
http://docm.genome.wustl.edu/variants/ENST00000256078:c.436G>A - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=KRAS - - - -

Text-mined citations for rs121913527...

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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