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NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2014
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:
RCV000153427.14

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]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202928Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Jan 22, 2014)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000202928.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024