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NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) AND MAP2K1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 29, 2024
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:
RCV004532347.3

Allele description [Variation Report for NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)]

NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)

Gene:
MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
Other names:
p.Y130C:TAT>TGT; NM_002755.3(MAP2K1):c.389A>G
HGVS:
  • NC_000015.10:g.66436843A>G
  • NG_008305.1:g.54971A>G
  • NM_002755.4:c.389A>GMANE SELECT
  • NP_002746.1:p.Tyr130Cys
  • NP_002746.1:p.Tyr130Cys
  • LRG_725t1:c.389A>G
  • LRG_725:g.54971A>G
  • LRG_725p1:p.Tyr130Cys
  • NC_000015.9:g.66729181A>G
  • NM_002755.3:c.389A>G
  • Q02750:p.Tyr130Cys
  • c.389A>G
Protein change:
Y130C; TYR130CYS
Links:
UniProtKB: Q02750#VAR_035094; OMIM: 176872.0002; dbSNP: rs121908595
NCBI 1000 Genomes Browser:
rs121908595
Molecular consequence:
  • NM_002755.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MAP2K1-related disorder
Synonyms:
MAP2K1-Related Disorders; MAP2K1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004116063PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 29, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116063.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MAP2K1 c.389A>G variant is predicted to result in the amino acid substitution p.Tyr130Cys. This variant has been reported in multiple individuals to be causative for cardio-facio-cutaneous (CFC) Syndrome (e.g., Rodriguez-Viciana et al. 2006. PubMed ID: 16439621; Çelik et al. 2014. PubMed ID: 24637312). In at least some of these individuals, this variant was reported to have arisen de novo (Ziats et al. 2020. PubMed ID: 31618753; Wang et al. 2020. PubMed ID: 32335888; Shieh et al. 2021. PubMed ID: 34556655). Functional studies have shown that this variant disrupts MAP2K1 protein function (Rodriguez-Viciana et al. 2006. PubMed ID: 16439621; Anastasaki et al. 2009. PubMed ID: 19376813). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024