NM_004985.5(KRAS):c.451-5642A>T AND Noonan syndrome 3

Clinical significance:Likely pathogenic (Last evaluated: Mar 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000789016.1

Allele description [Variation Report for NM_004985.5(KRAS):c.451-5642A>T]

NM_004985.5(KRAS):c.451-5642A>T

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.451-5642A>T
HGVS:
  • NC_000012.12:g.25215553T>A
  • NG_007524.1:g.40368A>T
  • NG_007524.2:g.40451A>T
  • NM_001369786.1:c.458A>T
  • NM_001369787.1:c.451-5642A>T
  • NM_004985.5:c.451-5642A>TMANE SELECT
  • NM_033360.4:c.458A>T
  • NP_001356715.1:p.Glu153Val
  • NP_203524.1:p.Glu153Val
  • LRG_344t1:c.451-5642A>T
  • LRG_344t2:c.458A>T
  • LRG_344:g.40451A>T
  • LRG_344p2:p.Glu153Val
  • NC_000012.11:g.25368487T>A
  • NM_033360.3:c.458A>T
Protein change:
E153V
Links:
dbSNP: rs1592798693
NCBI 1000 Genomes Browser:
rs1592798693
Molecular consequence:
  • NM_001369787.1:c.451-5642A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004985.5:c.451-5642A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369786.1:c.458A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.458A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Noonan syndrome 3 (NS3)
Synonyms:
KRAS gene related Noonan syndrome
Identifiers:
MONDO: MONDO:0012371; MedGen: C1860991; Orphanet: 648; OMIM: 609942

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928349Laboratory of Medical Genetics, National & Kapodistrian University of Athenscriteria provided, single submitter
Likely pathogenic
(Mar 27, 2018)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV000928349.1

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

Description

PS3,PM2,PP2,PP3,PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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