U.S. flag

An official website of the United States government

NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Dec 1, 2020
Review status:
criteria provided, conflicting classifications
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:
RCV000158047.26

Allele description [Variation Report for NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg)]

NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg)

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.787G>A (p.Gly263Arg)
Other names:
p.G263R:GGA>AGA
HGVS:
  • NC_000019.10:g.4099333C>T
  • NG_007996.1:g.29796G>A
  • NM_030662.4:c.787G>AMANE SELECT
  • NP_109587.1:p.Gly263Arg
  • NP_109587.1:p.Gly263Arg
  • LRG_750t1:c.787G>A
  • LRG_750:g.29796G>A
  • LRG_750p1:p.Gly263Arg
  • NC_000019.9:g.4099331C>T
  • NM_030662.3:c.787G>A
Protein change:
G263R
Links:
dbSNP: rs730880522
NCBI 1000 Genomes Browser:
rs730880522
Molecular consequence:
  • NM_030662.4:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207982GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Feb 3, 2014) 		germlineclinical testing

Citation Link,

SCV001501214CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Dec 1, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000207982.10

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

Description

p.Gly263Arg (GGA>AGA): c.787 G>A in exon 7 of the MAP2K2 gene (NM_030662.3). The G263R missense change has not been previously reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. The G263R missense change is a non-conservative amino acid substitution with a non-polar and neutral residue (Gly) being replaced by a polar and positively charged residue (Arg). The residue at which this substitution occurs is highly conserved. Another missense mutation (K273R) has been reported at a nearby residue. The G263R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the majority of missense changes in MAP2K2 are pathogenic mutations, the potential for benign coding variants to exist in this gene must be considered. This variant has been observed to be paternally inherited. The variant is found in NOONAN panel(s).

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

From CeGaT Center for Human Genetics Tuebingen, SCV001501214.23

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024