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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 15, 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:: RCV000844676.12

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:

Condition(s)

Name:: Noonan syndrome (NS)
Synonyms:: Noonan's syndrome
Identifiers:: MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

Name:: Cardio-facio-cutaneous syndrome
Synonyms:: Cardiofaciocutaneous syndrome; CFC syndrome
Identifiers:: MONDO: MONDO:0015280; MedGen: C1275081; Orphanet: 1340; OMIM: PS115150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000204178	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Feb 15, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18413255, 18039235, 17981815, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204178

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Feb 15, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Rauen KA.

Methods Enzymol. 2008;438:277-89. doi: 10.1016/S0076-6879(07)38019-1.

PubMed [citation]

PMID:: 18413255

Neurological complications of cardio-facio-cutaneous syndrome.

Yoon G, Rosenberg J, Blaser S, Rauen KA.

Dev Med Child Neurol. 2007 Dec;49(12):894-9.

PubMed [citation]

PMID:: 18039235

See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204178.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Mar 22, 2025

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