NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly) AND Neurofibromatosis-Noonan syndrome

Germline classification:: Likely benign (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:: RCV000824945.2

Allele description [Variation Report for NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)]

NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)

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.274A>G (p.Arg92Gly)

HGVS:

NC_000019.10:g.4117448T>C
NG_007996.1:g.11681A>G
NM_030662.4:c.274A>GMANE SELECT
NP_109587.1:p.Arg92Gly
NP_109587.1:p.Arg92Gly
LRG_750t1:c.274A>G
LRG_750:g.11681A>G
LRG_750p1:p.Arg92Gly
NC_000019.9:g.4117446T>C
NM_030662.3:c.274A>G

Protein change:

R92G

Links:

dbSNP: rs759061964

NCBI 1000 Genomes Browser:

rs759061964

Molecular consequence:

NM_030662.4:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurofibromatosis-Noonan syndrome (NFNS)
Synonyms:: Neurofibromatosis with Noonan phenotype
Identifiers:: MONDO: MONDO:0011035; MedGen: C2931482; Orphanet: 638; OMIM: 601321

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000965980	Service de Génétique Moléculaire, Hôpital Robert Debré	no assertion criteria provided	Likely benign	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000965980

Service de Génétique Moléculaire, Hôpital Robert Debré

no assertion criteria provided

Likely benign

paternal

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV000965980.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Oct 20, 2024

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