• not current

NM_005249.4(FOXG1):c.721A>G (p.Lys241Glu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 1, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187485.1

Allele description

NM_005249.4(FOXG1):c.721A>G (p.Lys241Glu)

Gene:
FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_005249.4(FOXG1):c.721A>G (p.Lys241Glu)
HGVS:
  • NC_000014.9:g.28768000A>G
  • NG_009367.1:g.5920A>G
  • NM_005249.4:c.721A>G
  • NP_005240.3:p.Lys241Glu
  • NC_000014.8:g.29237206A>G
  • NM_005249.3:c.721A>G
  • p.K241E:AAG>GAG
Protein change:
K241E
Links:
dbSNP: rs796052483
NCBI 1000 Genomes Browser:
rs796052483
Molecular consequence:
  • NM_005249.4:c.721A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241079GeneDxcriteria provided, single submitter
Likely pathogenic
(Dec 1, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241079.3

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

Description

p.Lys241Glu (AAG>GAG): c.721 A>G in exon 1 in the FOXG1 gene (NM_005249.3). The K241E variant in the FOXG1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The K241E 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. The K241E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (S234P and R244C) have been reported in association with FOXG1-related disorders, supporting the functional importance of this region of the protein. The K241E variant is a good candidate for a disease-causing mutation, however the possibility it may be a rare benign variant cannot be excluded. The variant is found in ,FOXG1 panel(s).

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

Last Updated: May 29, 2016