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NM_030662.4(MAP2K2):c.391G>A (p.Val131Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 4, 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:
RCV000039479.5

Allele description [Variation Report for NM_030662.4(MAP2K2):c.391G>A (p.Val131Met)]

NM_030662.4(MAP2K2):c.391G>A (p.Val131Met)

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.391G>A (p.Val131Met)
HGVS:
  • NC_000019.10:g.4110568C>T
  • NG_007996.1:g.18561G>A
  • NM_030662.4:c.391G>AMANE SELECT
  • NP_109587.1:p.Val131Met
  • NP_109587.1:p.Val131Met
  • LRG_750t1:c.391G>A
  • LRG_750:g.18561G>A
  • LRG_750p1:p.Val131Met
  • NC_000019.9:g.4110566C>T
  • NM_030662.3:c.391G>A
  • c.391G>A
Protein change:
V131M
Links:
dbSNP: rs397517413
NCBI 1000 Genomes Browser:
rs397517413
Molecular consequence:
  • NM_030662.4:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000063165Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 4, 2012) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000063165.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Val131Met variant in MEK2 has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Val 131Met variant may impact the protein, though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully as sess the clinical significance of the Val131Met variant.

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

Last Updated: Sep 29, 2024