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NM_002755.4(MAP2K1):c.657G>C (p.Met219Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 2012
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:
RCV000158011.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.657G>C (p.Met219Ile)]

NM_002755.4(MAP2K1):c.657G>C (p.Met219Ile)

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.657G>C (p.Met219Ile)
Other names:
p.M219I:ATG>ATC
HGVS:
  • NC_000015.10:g.66481843G>C
  • NG_008305.1:g.99971G>C
  • NM_002755.4:c.657G>CMANE SELECT
  • NP_002746.1:p.Met219Ile
  • NP_002746.1:p.Met219Ile
  • LRG_725t1:c.657G>C
  • LRG_725:g.99971G>C
  • LRG_725p1:p.Met219Ile
  • NC_000015.9:g.66774181G>C
  • NM_002755.3:c.657G>C
Protein change:
M219I
Links:
dbSNP: rs730880506
NCBI 1000 Genomes Browser:
rs730880506
Molecular consequence:
  • NM_002755.4:c.657G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207946GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 22, 2012) 		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, SCV000207946.9

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

Description

A variant of unknown significance has been identified. The M219I missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The M219I missense change is a conservative substitution as both the Methionine and Isoleucine residues are neutral and non-polar. The NHLBI ESP Exome Variant Server reports that M219I was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, this variant occurs at a position that is only moderately conserved in the protein and not conserved in related proteins. Another missense mutation in a nearby codon (E203Q) has been reported previously in association with cardio-facio-cutaneous syndrome (Nystrom et al., 2008). Therefore, this result cannot be interpreted for diagnosis or used for genetic counseling without further studies. The variant is found in NOONAN panel(s).

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

Last Updated: Apr 23, 2022