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NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 9, 2023
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:
RCV003313157.1

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004012693GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004012693.1

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

Description

Identified as a somatic variant via lymph node biopsy testing in a patient with Castleman disease in published literature, though this variant was absent in bone marrow and the patient did not exhibit features of MAP2K2-related RASopathy (Yoshimi et al., 2020); A published functional study demonstrates a damaging effect, including increased activation of MAPK signaling and increased cell proliferation (Yoshimi et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 32051554)

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

Last Updated: Oct 13, 2024