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NM_030662.4(MAP2K2):c.1117G>A (p.Glu373Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2022
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:
RCV002435121.1

Allele description

NM_030662.4(MAP2K2):c.1117G>A (p.Glu373Lys)

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.1117G>A (p.Glu373Lys)
HGVS:
  • NC_000019.10:g.4090684C>T
  • NG_007996.1:g.38445G>A
  • NM_030662.4:c.1117G>AMANE SELECT
  • NP_109587.1:p.Glu373Lys
  • NP_109587.1:p.Glu373Lys
  • LRG_750t1:c.1117G>A
  • LRG_750:g.38445G>A
  • LRG_750p1:p.Glu373Lys
  • NC_000019.9:g.4090682C>T
  • NM_030662.3:c.1117G>A
Protein change:
E373K
Molecular consequence:
  • NM_030662.4:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002746467Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Mar 9, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002746467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.E373K variant (also known as c.1117G>A), located in coding exon 11 of the MAP2K2 gene, results from a G to A substitution at nucleotide position 1117. The glutamic acid at codon 373 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024