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NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu) AND MAP2K2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 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:
RCV003908112.2

Allele description [Variation Report for NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)]

NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)

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.383C>T (p.Pro128Leu)
HGVS:
  • NC_000019.10:g.4110576G>A
  • NG_007996.1:g.18553C>T
  • NM_030662.3:c.383C>T
  • NM_030662.4:c.383C>TMANE SELECT
  • NP_109587.1:p.Pro128Leu
  • LRG_750t1:c.383C>T
  • LRG_750:g.18553C>T
  • NC_000019.9:g.4110574G>A
Protein change:
P128L
Links:
dbSNP: rs267607230
NCBI 1000 Genomes Browser:
rs267607230
Molecular consequence:
  • NM_030662.4:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MAP2K2-related disorder
Synonyms:
MAP2K2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004724158PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jan 19, 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, SCV004724158.2

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

Description

The MAP2K2 c.383C>T variant is predicted to result in the amino acid substitution p.Pro128Leu. This variant was reported as a somatic variant in an individual with TAFRO, which is a clinical subtype of idiopathic multicentric Castleman disease (iMCD) syndrome (iMCD-TARFO) (Patient 1, Yoshimi et al 2020. PubMed ID: 32051554). Functional studies of this variant showed it lead to hyperactivated MAP kinase signaling, conferred IL-3 hypersensitivity, and sensitized the cells to MEK inhibitors (Yoshimi et al. 2020. PubMed ID: 32051554). At PreventionGenetics, this variant has been reported de novo in a fetus with non-immune hydrops fetalis (Internal Data). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024