NM_002524.5(NRAS):c.35G>T (p.Gly12Val) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Nov 13, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000158986.5

Allele description

NM_002524.5(NRAS):c.35G>T (p.Gly12Val)

Gene:

NRAS:NRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

Preferred name:

NM_002524.5(NRAS):c.35G>T (p.Gly12Val)

Other names:

p.G12V:GGT>GTT

HGVS:

NC_000001.11:g.114716126C>A
NG_007572.1:g.5769G>T
NM_002524.5:c.35G>TMANE SELECT
NP_002515.1:p.Gly12Val
LRG_92t1:c.35G>T
LRG_92:g.5769G>T
NC_000001.10:g.115258747C>A
NM_002524.3:c.35G>T
NM_002524.4:c.35G>T
c.35G>T

Protein change:

G12V

Links:

dbSNP: rs121913237

NCBI 1000 Genomes Browser:

rs121913237

Molecular consequence:

NM_002524.5:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Conserved Domain Links for Protein (Select 1907079184) (2)
Conserved Domains
Rosiglitazone effect on kidneys
Rosiglitazone effect on kidneys
Accession: GDS3396

GEO DataSets
Related DataSets for GEO Profiles (Select 55639374) (1)
GEO DataSets
Profile neighbors for GEO Profiles (Select 113267731) (200)
GEO Profiles
Tribolium madens isolate multiple individuals breed KSU strain unplaced genomic ...
Tribolium madens isolate multiple individuals breed KSU strain unplaced genomic scaffold, Tmad_KSU_1.1 Scaffold_109;HRSCAF=270, whole genome shotgun sequence
gi|2113060421|gnl|ASM:GCF_015345965 affold_109;HRSCAF=270|ref|NW_025400969.1||gpp|GPS_021943989.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208925	GeneDx	criteria provided, single submitter (GeneDX Variant Classification (06012015))	Pathogenic (Nov 13, 2019)	germline	clinical testing	Citation Link,
SCV002035696	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV002037405	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208925

GeneDx

criteria provided, single submitter

(GeneDX Variant Classification (06012015))

Pathogenic
(Nov 13, 2019)

germline

clinical testing

Citation Link,

SCV002035696

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Pathogenic

germline

clinical testing

SCV002037405

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000208925.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published functional studies demonstrate a damaging gain-of-function effect due to promotion of a shift towards the constitutively activated GTP-bound conformation of the protein, and enhanced ERK and AKT activation basally (Altmller 2017); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20736745, 25691160, 15831708, 20619739, 17699718, 28594414, 18952898, 15046639, 14982869, 26619011, 21829508, 21729679, 21305640, 16273091, 22589270)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002035696.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV002037405.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 13, 2023

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