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NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) AND Cardiofaciocutaneous syndrome 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000013425.34

Allele description [Variation Report for NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)]

NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)

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.15A>T (p.Lys5Asn)
Other names:
NM_004985.4(KRAS):c.15A>T
HGVS:
  • NC_000012.12:g.25245370T>A
  • NG_007524.2:g.10634A>T
  • NM_001369786.1:c.15A>T
  • NM_001369787.1:c.15A>T
  • NM_004985.5:c.15A>TMANE SELECT
  • NM_033360.4:c.15A>T
  • NP_001356715.1:p.Lys5Asn
  • NP_001356716.1:p.Lys5Asn
  • NP_004976.2:p.Lys5Asn
  • NP_004976.2:p.Lys5Asn
  • NP_004976.2:p.Lys5Asn
  • NP_203524.1:p.Lys5Asn
  • LRG_344t1:c.15A>T
  • LRG_344t2:c.15A>T
  • LRG_344:g.10634A>T
  • LRG_344p1:p.Lys5Asn
  • LRG_344p2:p.Lys5Asn
  • NC_000012.11:g.25398304T>A
  • NG_007524.1:g.10551A>T
  • NM_004985.3:c.15A>T
  • NM_004985.4:c.15A>T
  • NM_033360.2:c.15A>T
  • P01116:p.Lys5Asn
Protein change:
K5N; LYS5ASN
Links:
UniProtKB: P01116#VAR_064849; OMIM: 190070.0017; dbSNP: rs104894361
NCBI 1000 Genomes Browser:
rs104894361
Molecular consequence:
  • NM_001369786.1:c.15A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.15A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.15A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.15A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiofaciocutaneous syndrome 2 (CFC2)
Identifiers:
MONDO: MONDO:0014112; MedGen: C3809005; Orphanet: 1340; OMIM: 615278

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033672OMIM
no assertion criteria provided
Pathogenic
(May 1, 2008) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K.

J Med Genet. 2007 Feb;44(2):131-5. Epub 2006 Oct 20.

PubMed [citation]
PMID:
17056636
PMCID:
PMC2598066

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.

Kerr B, Allanson J, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA.

Am J Med Genet A. 2008 May 1;146A(9):1218-20. doi: 10.1002/ajmg.a.32273. Review. No abstract available.

PubMed [citation]
PMID:
18386799

Details of each submission

From OMIM, SCV000033672.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 7.5-month-old male infant with a clinical diagnosis of Costello syndrome (218040), Zenker et al. (2007) identified a heterozygous 15A-T transversion in exon 1 of the KRAS2 gene, resulting in a lys5-to-asn (K5N) substitution. The patient had hypertelorism, downslanting palpebral fissures, coarse facies, pectus carinatum, sparse hair, redundant skin, and moderate mental retardation. Zenker et al. (2007) noted that the patient may later develop features of cardiofaciocutaneous syndrome (CFC2; 615278), which is commonly associated with KRAS mutations, but emphasized that the findings underscored the central role of Ras in the pathogenesis of these phenotypically related disorders.

Kerr et al. (2008) commented that the diagnosis of Costello syndrome should be used only to refer to patients with mutations in the HRAS gene (190020).

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

Last Updated: Sep 16, 2024