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NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
4 (Most recent: Dec 11, 2020)
Last evaluated:
May 9, 2017
Accession:
VCV000040747.3
Variation ID:
40747
Description:
single nucleotide variant
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NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)

Allele ID
49217
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q22.31
Genomic location
15: 66436842 (GRCh38) GRCh38 UCSC
15: 66729180 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.66436842T>C
NC_000015.9:g.66729180T>C
NM_002755.4:c.388T>C MANE Select NP_002746.1:p.Tyr130His missense
... more HGVS
Protein change
Y130H
Other names
NM_002755.3(MAP2K1):c.388T>C
Canonical SPDI
NC_000015.10:66436841:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA279999
dbSNP: rs397516793
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 reviewed by expert panel May 9, 2017 RCV000037596.3
Pathogenic 1 criteria provided, single submitter Jul 28, 2015 RCV000623628.1
Pathogenic 1 criteria provided, single submitter Sep 12, 2019 RCV001286663.1

Clinical features observed in individuals with this variant

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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
233 281

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 09, 2017)
reviewed by expert panel
Method: curation
Cardio-facio-cutaneous syndrome
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen RASopathy Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000616533.3
Submitted: (Feb 25, 2019)
Evidence details
Publications
PubMed (2)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The c.388T>C (p.Tyr130His) variant in MAP2K1 has been reported in the literature as an unconfirmed de novo occurrence in a patient with clinical features of … (more)
Pathogenic
(Sep 12, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473272.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The MAP2K1 c.388T>C; p.Tyr130His variant (rs397516793) is reported in the literature in individuals affected with cardio-facio-cutaneous (CFC) syndrome, including at least one de novo occurence … (more)
Pathogenic
(Mar 07, 2012)
criteria provided, single submitter
Method: clinical testing
Cardio-facio-cutaneous syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061255.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (5)
Comment:
The Tyr130His variant has been reported in one individual with clinical features of Cardio-facio-cutaneous syndrome and was shown to have occurred de novo (Dent ici … (more)
Pathogenic
(Jul 28, 2015)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000740998.2
Submitted: (Oct 09, 2020)
Evidence details

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
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. Gelb BD Genetics in medicine : official journal of the American College of Medical Genetics 2018 PMID: 29493581
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Dentici ML European journal of human genetics : EJHG 2009 PMID: 19156172
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Schulz AL Clinical genetics 2008 PMID: 18042262
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Gripp KW American journal of medical genetics. Part A 2007 PMID: 17551924
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Narumi Y American journal of medical genetics. Part A 2007 PMID: 17366577
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Rodriguez-Viciana P Science (New York, N.Y.) 2006 PMID: 16439621
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9f86afbc-b31d-472c-ac5d-ee0799f21c9c - - - -

Text-mined citations for rs397516793...

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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 Jul 07, 2021