NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val) AND RASopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 4, 2012
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:: RCV000158013.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val)]

NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val)

Gene:

MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

15q22.31

Genomic location:

Preferred name:

NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val)

Other names:

p.G128V:GGC>GTT

HGVS:

NC_000015.10:g.66436837_66436838delinsTT
NG_008305.1:g.54965_54966delinsTT
NM_002755.4:c.383_384delinsTTMANE SELECT
NP_002746.1:p.Gly128Val
LRG_725:g.54965_54966delinsTT
NC_000015.9:g.66729175_66729176delinsTT
NM_002755.3:c.383_384delGCinsTT

Protein change:

G128V

Links:

dbSNP: rs730880508

NCBI 1000 Genomes Browser:

rs730880508

Molecular consequence:

NM_002755.4:c.383_384delinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: RASopathy
Synonyms:: rasopathies; Noonan spectrum disorder
Identifiers:: MONDO: MONDO:0021060; MedGen: C5555857

Recent activity

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TJP2 [Chelonoidis abingdonii]
TJP2 [Chelonoidis abingdonii]
Gene ID:116837457

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207948	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 4, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207948

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 4, 2012)

germline

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000207948.2

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

Description

Heterozygous for the G128V mutation in the MAP2K1 gene, consistent with the diagnosis of a disorder in the Noonan syndrome spectrum. c.383_384delGCinsTT: p.Gly128Val (G128V) in exon 3 of the MAP2K1 gene (NM_002755.3) Although this exact mutation has not previously been reported to our knowledge, another nucleotide substitution (c.383 G>T) leading to the same amino acid substitution, G128V, has been published in the literature as a mutation in an individual with cardio-facio-cutaneous syndrome (Albrecht et al., 2007). The variant is found in NOONAN panel(s).

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

Last Updated: Jun 9, 2022

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