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NM_004985.5(KRAS):c.451-5622G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 2017
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:
RCV000590191.1

Allele description [Variation Report for NM_004985.5(KRAS):c.451-5622G>A]

NM_004985.5(KRAS):c.451-5622G>A

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.451-5622G>A
HGVS:
  • NC_000012.12:g.25215533C>T
  • NG_007524.1:g.40388G>A
  • NG_007524.2:g.40471G>A
  • NM_001369786.1:c.478G>A
  • NM_001369787.1:c.451-5622G>A
  • NM_004985.5:c.451-5622G>AMANE SELECT
  • NM_033360.4:c.478G>A
  • NP_001356715.1:p.Val160Met
  • NP_203524.1:p.Val160Met
  • LRG_344t1:c.451-5622G>A
  • LRG_344t2:c.478G>A
  • LRG_344:g.40471G>A
  • LRG_344p2:p.Val160Met
  • NC_000012.11:g.25368467C>T
  • NM_033360.2:c.478G>A
Protein change:
V160M
Links:
dbSNP: rs755877953
NCBI 1000 Genomes Browser:
rs755877953
Molecular consequence:
  • NM_001369787.1:c.451-5622G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004985.5:c.451-5622G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369786.1:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699773Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 13, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699773.1

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

Description

Variant summary: The KRAS c.478G>A (p.Val160Met) variant located in the P-loop containing nucleoside triphosphate hydrolase domain (via InterPro) involves the alteration of a conserved nucleotide, which 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/121284 control chromosomes, which does not exceed the estimated maximal expected allele frequency for a pathogenic KRAS variant of 1/80000. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Oct 15, 2022