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NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Sep 21, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000681039.7

Allele description [Variation Report for NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)]

NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)
HGVS:
  • NC_000012.12:g.25245348C>A
  • NG_007524.2:g.10656G>T
  • NM_001369786.1:c.37G>T
  • NM_001369787.1:c.37G>T
  • NM_004985.5:c.37G>TMANE SELECT
  • NM_033360.4:c.37G>T
  • NP_001356715.1:p.Gly13Cys
  • NP_001356716.1:p.Gly13Cys
  • NP_004976.2:p.Gly13Cys
  • NP_203524.1:p.Gly13Cys
  • LRG_344t1:c.37G>T
  • LRG_344t2:c.37G>T
  • LRG_344:g.10656G>T
  • LRG_344p1:p.Gly13Cys
  • LRG_344p2:p.Gly13Cys
  • NC_000012.11:g.25398282C>A
  • NG_007524.1:g.10573G>T
  • NM_004985.3:c.37G>T
  • NM_004985.4:c.37G>T
  • NM_033360.3:c.37G>T
  • c.37G>T
Protein change:
G13C; GLY13CYS
Links:
OMIM: 190070.0023; dbSNP: rs121913535
NCBI 1000 Genomes Browser:
rs121913535
Molecular consequence:
  • NM_001369786.1:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.37G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000808492GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Sep 21, 2022) 		germlineclinical testing

Citation Link,

SCV000928185Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Jan 22, 2019) 		germlineclinical testing

Citation Link,

SCV001552227Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000808492.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate that this variant causes increased RAS activation (Niemela et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 19661383, 22306671, 17517660, 25705018, 25691160, 21063026, 34056834, 22571758, 29493581, 21079152, 17875937, 27577878, 35116442)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Blueprint Genetics, SCV000928185.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552227.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided3not providednot providednot provided

Last Updated: May 26, 2024