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NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 2, 2018
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:
RCV001266169.4

Allele description [Variation Report for NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)]

NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)

Gene:
MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)
HGVS:
  • NC_000015.10:g.66481793G>A
  • NG_008305.1:g.99921G>A
  • NM_002755.4:c.607G>AMANE SELECT
  • NP_002746.1:p.Glu203Lys
  • NP_002746.1:p.Glu203Lys
  • LRG_725t1:c.607G>A
  • LRG_725:g.99921G>A
  • LRG_725p1:p.Glu203Lys
  • NC_000015.9:g.66774131G>A
  • NM_002755.3:c.607G>A
Protein change:
E203K
Links:
dbSNP: rs1057519733
NCBI 1000 Genomes Browser:
rs1057519733
Molecular consequence:
  • NM_002755.4:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444341Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Jul 2, 2018) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African American / Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE.

Nat Genet. 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026.

PubMed [citation]
PMID:
22197931

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.

J Med Genet. 2008 Aug;45(8):500-6. doi: 10.1136/jmg.2008.057653. Epub 2008 May 2.

PubMed [citation]
PMID:
18456719
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV001444341.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American / Caucasian1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 30, 2023