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NM_005343.4(HRAS):c.35G>T (p.Gly12Val)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Mar 21, 2019)
Last evaluated:
Aug 31, 2016
Accession:
VCV000012600.3
Variation ID:
12600
Description:
single nucleotide variant
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NM_005343.4(HRAS):c.35G>T (p.Gly12Val)

Allele ID
27639
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 534288 (GRCh38) GRCh38 UCSC
11: 534288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_506:g.6263G>T
LRG_506t1:c.35G>T LRG_506p1:p.Gly12Val
NC_000011.9:g.534288C>A
... more HGVS
Protein change
G12V
Other names
p.G12V:GGC>GTA
Canonical SPDI
NC_000011.10:534287:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA122545
UniProtKB: P01112#VAR_006836
OMIM: 190020.0001
dbSNP: rs104894230
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jun 4, 2014 RCV000013432.29
Pathogenic 1 criteria provided, single submitter Aug 31, 2016 RCV000157912.1
Pathogenic 1 no assertion criteria provided Apr 1, 2012 RCV000013431.7
Pathogenic 1 no assertion criteria provided Apr 1, 2012 RCV000013433.27
Pathogenic 1 no assertion criteria provided Apr 1, 2012 RCV000032850.7
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000428111.1
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000438340.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HRAS No evidence available No evidence available GRCh38
GRCh38
GRCh37
8 410
LRRC56 - - GRCh38
GRCh38
GRCh37
32 437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 04, 2014)
criteria provided, single submitter
Method: clinical testing
Costello syndrome
Allele origin: unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000263055.1
Submitted: (Dec 22, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 31, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000207846.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Gly12Val (GGC>GTC): c.35 G>T in exon 2 of the HRAS gene (NM_005343.2). This mutation as well as other mutations leading to the G12V substitution have … (more)
Pathogenic
(May 05, 2011)
criteria provided, single submitter
Method: clinical testing
Costello syndrome
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062137.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The Gly12Val variant in HRAS has been reported in the literature in a proband wi th Costello syndrome and was verified to have occured de … (more)
Pathogenic
(Apr 01, 2012)
no assertion criteria provided
Method: literature only
BLADDER CANCER, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000033678.4
Submitted: (Jun 18, 2015)
Evidence details
Publications
PubMed (9)
Pathogenic
(Apr 01, 2012)
no assertion criteria provided
Method: literature only
COSTELLO SYNDROME
Allele origin: unknown
OMIM
Accession: SCV000033679.4
Submitted: (Jun 18, 2015)
Evidence details
Publications
PubMed (9)
Pathogenic
(Apr 01, 2012)
no assertion criteria provided
Method: literature only
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
Allele origin: unknown
OMIM
Accession: SCV000033680.4
Submitted: (Jun 18, 2015)
Evidence details
Publications
PubMed (9)
Pathogenic
(Apr 01, 2012)
no assertion criteria provided
Method: literature only
EPIDERMAL NEVUS, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000056619.4
Submitted: (Feb 06, 2013)
Evidence details
Publications
PubMed (9)
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: SCV000504411.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (4)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Melanoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504410.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
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
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. Hafner C Journal of medical genetics 2012 PMID: 22499344
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
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
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. van der Burgt I Journal of medical genetics 2007 PMID: 17412879
Hyperactive Ras in developmental disorders and cancer. Schubbert S Nature reviews. Cancer 2007 PMID: 17384584
Germline mutations in HRAS proto-oncogene cause Costello syndrome. Aoki Y Nature genetics 2005 PMID: 16170316
Myopathology in patients with a Noonan phenotype. de Boode WP Acta neuropathologica 1996 PMID: 8960317
Biochemical characterization of polypeptides encoded by mutated human Ha-ras1 genes. Colby WW Molecular and cellular biology 1986 PMID: 3537694
Loss of genes on the short arm of chromosome 11 in bladder cancer. Fearon ER Nature 1985 PMID: 2999610
Analysis of the transforming potential of the human H-ras gene by random mutagenesis. Fasano O Proceedings of the National Academy of Sciences of the United States of America 1984 PMID: 6330729
Biological properties of human c-Ha-ras1 genes mutated at codon 12. Seeburg PH Nature 1984 PMID: 6092966
Activation of the T24 bladder carcinoma transforming gene is linked to a single amino acid change. Taparowsky E Nature 1982 PMID: 7177195
http://docm.genome.wustl.edu/variants/ENST00000311189:c.35G>T - - - -

Text-mined citations for rs104894230...

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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 27, 2021