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NM_033360.4(KRAS):c.491G>A (p.Arg164Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 23, 2020
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:
RCV001269107.1

Allele description [Variation Report for NM_033360.4(KRAS):c.491G>A (p.Arg164Gln)]

NM_033360.4(KRAS):c.491G>A (p.Arg164Gln)

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.491G>A (p.Arg164Gln)
HGVS:
  • NC_000012.12:g.25215520C>T
  • NG_007524.2:g.40484G>A
  • NM_001369786.1:c.491G>A
  • NM_001369787.1:c.451-5609G>A
  • NM_004985.5:c.451-5609G>AMANE SELECT
  • NM_033360.4:c.491G>A
  • NP_001356715.1:p.Arg164Gln
  • NP_203524.1:p.Arg164Gln
  • LRG_344t1:c.451-5609G>A
  • LRG_344t2:c.491G>A
  • LRG_344:g.40484G>A
  • LRG_344p2:p.Arg164Gln
  • NC_000012.11:g.25368454C>T
  • NG_007524.1:g.40401G>A
  • NM_033360.3:c.491G>A
Protein change:
R164Q
Links:
dbSNP: rs758575947
NCBI 1000 Genomes Browser:
rs758575947
Molecular consequence:
  • NM_001369787.1:c.451-5609G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004985.5:c.451-5609G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369786.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448349Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 23, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Activating K-Ras mutations outwith 'hotspot' codons in sporadic colorectal tumours - implications for personalised cancer medicine.

Smith G, Bounds R, Wolf H, Steele RJ, Carey FA, Wolf CR.

Br J Cancer. 2010 Feb 16;102(4):693-703. doi: 10.1038/sj.bjc.6605534.

PubMed [citation]
PMID:
20147967
PMCID:
PMC2837563

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001448349.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: KRAS c.491G>A (p.Arg164Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251168 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.491G>A in individuals affected with Noonan Syndrome has been reported in the literature. Experimental evidence from Ras activating assays demonstrated the variant to act similarly to wild-type (Smith_2010). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance until additional evidence of clinical and/or functional importance becomes available.

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

Last Updated: Oct 20, 2024