NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jun 14, 2023
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:: RCV000520244.4

Allele description [Variation Report for NM_033360.4(KRAS):c.439A>G (p.Lys147Glu)]

NM_033360.4(KRAS):c.439A>G (p.Lys147Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_033360.4(KRAS):c.439A>G (p.Lys147Glu)

HGVS:

NC_000012.12:g.25225625T>C
NG_007524.2:g.30379A>G
NM_001369786.1:c.439A>G
NM_001369787.1:c.439A>G
NM_004985.5:c.439A>GMANE SELECT
NM_033360.4:c.439A>G
NP_001356715.1:p.Lys147Glu
NP_001356716.1:p.Lys147Glu
NP_004976.2:p.Lys147Glu
NP_203524.1:p.Lys147Glu
LRG_344t1:c.439A>G
LRG_344t2:c.439A>G
LRG_344:g.30379A>G
LRG_344p1:p.Lys147Glu
LRG_344p2:p.Lys147Glu
NC_000012.11:g.25378559T>C
NG_007524.1:g.30296A>G
NM_004985.3:c.439A>G
P01116:p.Lys147Glu

Protein change:

K147E; LYS147GLU

Links:

UniProtKB: P01116#VAR_069785; OMIM: 190070.0022; dbSNP: rs387907206

NCBI 1000 Genomes Browser:

rs387907206

Molecular consequence:

NM_001369786.1:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369787.1:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004985.5:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033360.4:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000616756	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 14, 2023)	germline	clinical testing	Citation Link,
SCV000927552	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Feb 28, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000616756

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 14, 2023)

germline

clinical testing

Citation Link,

SCV000927552

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Feb 28, 2018)

germline

clinical testing

Citation Link

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, SCV000616756.4

#	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 that K147E variant increases activated KRAS levels (Cirstea et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25412182, 36902296, 35373279, 33790768, 21797849, 23059812)

#	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 Blueprint Genetics, SCV000927552.1

#	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: May 7, 2024

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