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NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) AND Noonan syndrome 1

Germline classification:
Pathogenic (1 submission)
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:
RCV003453160.1

Allele description [Variation Report for NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)]

NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)

Gene:
MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)
Other names:
NM_030662.3(MAP2K2):c.401A>G
HGVS:
  • NC_000019.10:g.4110558T>C
  • NG_007996.1:g.18571A>G
  • NM_030662.4:c.401A>GMANE SELECT
  • NP_109587.1:p.Tyr134Cys
  • NP_109587.1:p.Tyr134Cys
  • LRG_750t1:c.401A>G
  • LRG_750:g.18571A>G
  • LRG_750p1:p.Tyr134Cys
  • NC_000019.9:g.4110556T>C
  • NM_030662.3:c.401A>G
Protein change:
Y134C
Links:
dbSNP: rs727504370
NCBI 1000 Genomes Browser:
rs727504370
Molecular consequence:
  • NM_030662.4:c.401A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Noonan syndrome 1 (NS1)
Synonyms:
FEMALE PSEUDO-TURNER SYNDROME; TURNER PHENOTYPE WITH NORMAL KARYOTYPE; Turner Syndrome, Male
Identifiers:
MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004190079Molecular Genetics, Centre for Human Genetics
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Molecular Genetics, Centre for Human Genetics, SCV004190079.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 11, 2025