NM_004985.5(KRAS):c.24A>G (p.Val8=) AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Dec 23, 2019
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:: RCV000038261.15

Allele description [Variation Report for NM_004985.5(KRAS):c.24A>G (p.Val8=)]

NM_004985.5(KRAS):c.24A>G (p.Val8=)

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.24A>G (p.Val8=)

Other names:

p.V8V:GTA>GTG; NM_004985.4(KRAS):c.24A>G

HGVS:

NC_000012.12:g.25245361T>C
NG_007524.2:g.10643A>G
NM_001369786.1:c.24A>G
NM_001369787.1:c.24A>G
NM_004985.5:c.24A>GMANE SELECT
NM_033360.4:c.24A>G
NP_001356715.1:p.Val8=
NP_001356716.1:p.Val8=
NP_004976.2:p.Val8=
NP_203524.1:p.Val8=
LRG_344t1:c.24A>G
LRG_344t2:c.24A>G
LRG_344:g.10643A>G
LRG_344p1:p.Val8=
LRG_344p2:p.Val8=
NC_000012.11:g.25398295T>C
NG_007524.1:g.10560A>G
NM_004985.3:c.24A>G
NM_004985.4:c.24A>G
NM_033360.3:c.24A>G
c.24A>G
p.Val8Val

Links:

dbSNP: rs147406419

NCBI 1000 Genomes Browser:

rs147406419

Molecular consequence:

NM_001369786.1:c.24A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001369787.1:c.24A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004985.5:c.24A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_033360.4:c.24A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061930	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Feb 24, 2010)	somatic	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18456719, 17409930, 24033266
SCV000170025	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (May 23, 2014)	germline	clinical testing	Citation Link,
SCV000310754	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001363597	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Dec 23, 2019)	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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	somatic	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.

J Med Genet. 2008 Aug;45(8):500-6. doi: 10.1136/jmg.2008.057653. Epub 2008 May 2.

PubMed [citation]

PMID:: 18456719

Mutation and polymorphism in the EGFR-TK domain associated with lung cancer.

Zhang W, Stabile LP, Keohavong P, Romkes M, Grandis JR, Traynor AM, Siegfried JM.

J Thorac Oncol. 2006 Sep;1(7):635-47.

PubMed [citation]

PMID:: 17409930

See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061930.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

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

From GeneDx, SCV000170025.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 PreventionGenetics, part of Exact Sciences, SCV000310754.1

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

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001363597.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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