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NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 23, 2020
Accession:
VCV000013352.5
Variation ID:
13352
Description:
single nucleotide variant
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NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)

Allele ID
28391
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.31
Genomic location
15: 66436837 (GRCh38) GRCh38 UCSC
15: 66729175 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002755.3:c.383G>T NP_002746.1:p.Gly128Val missense
NC_000015.10:g.66436837G>T
NC_000015.9:g.66729175G>T
... more HGVS
Protein change
G128V
Other names
-
Canonical SPDI
NC_000015.10:66436836:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA280038
UniProtKB: Q02750#VAR_069780
OMIM: 176872.0003
dbSNP: rs121908596
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 27, 2017 RCV000207493.2
Likely pathogenic 1 criteria provided, single submitter Nov 21, 2014 RCV000211725.1
Pathogenic 1 criteria provided, single submitter Mar 23, 2020 RCV001234104.2
Pathogenic 1 no assertion criteria provided Jan 1, 2008 RCV000043673.20
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAP2K1 No evidence available No evidence available GRCh38
GRCh37
240 289

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 21, 2014)
criteria provided, single submitter
Method: clinical testing
Cardio-facio-cutaneous syndrome
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061254.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The p.Gly128Val variant in MAP2K1 has been previously identified in 2 individual s with clinical features of Cardio-facio-cutaneous syndrome (Schulz 2008, LMM un published data) … (more)
Likely pathogenic
(Jul 21, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000263047.1
Submitted: (Dec 22, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Nov 27, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000808249.1
Submitted: (Sep 14, 2018)
Evidence details
Comment:
The G128V missense variant in the MAP2K1 gene has been reported previously as de novo and in association with cardiofaciocutaneous syndrome (Schulz et al., 2008). … (more)
Pathogenic
(Mar 23, 2020)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV001406731.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces glycine with valine at codon 128 of the MAP2K1 protein (p.Gly128Val). The glycine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 01, 2008)
no assertion criteria provided
Method: literature only
CARDIOFACIOCUTANEOUS SYNDROME 3
Allele origin: germline
OMIM
Accession: SCV000034529.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
In vivo severity ranking of Ras pathway mutations associated with developmental disorders. Jindal GA Proceedings of the National Academy of Sciences of the United States of America 2017 PMID: 28049852
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Siegel DH The British journal of dermatology 2011 PMID: 21062266
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Anastasaki C Human molecular genetics 2009 PMID: 19376813
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. Rodriguez-Viciana P Methods in enzymology 2008 PMID: 18413255
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Schulz AL Clinical genetics 2008 PMID: 18042262
Neurological complications of cardio-facio-cutaneous syndrome. Yoon G Developmental medicine and child neurology 2007 PMID: 18039235
Structure of (cyano)(2,3,7,8,12,13,17,18-octaethylporphinato)(pyridine)iron(III) chloroform solvate. Scheidt WR Acta crystallographica. Section C, Crystal structure communications 1991 PMID: 1804226

Text-mined citations for rs121908596...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021