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NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2014
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:
RCV000188067.1

Allele description [Variation Report for NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly)]

NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly)

Gene:
MBD5:methyl-CpG binding domain protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.1
Genomic location:
Preferred name:
NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly)
Other names:
p.E163G:GAA>GGA
HGVS:
  • NC_000002.12:g.148468431A>G
  • NG_017003.2:g.452421A>G
  • NM_001378120.1:c.488A>GMANE SELECT
  • NM_018328.5:c.488A>G
  • NP_001365049.1:p.Glu163Gly
  • NP_060798.2:p.Glu163Gly
  • NP_060798.2:p.Glu163Gly
  • NC_000002.11:g.149226000A>G
  • NM_018328.4:c.488A>G
Protein change:
E163G
Links:
dbSNP: rs796052706
NCBI 1000 Genomes Browser:
rs796052706
Molecular consequence:
  • NM_001378120.1:c.488A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018328.5:c.488A>G - 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
SCV000241671GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 11, 2014) 		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, SCV000241671.10

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

Description

p.Glu163Gly (GAA>GGA): c.488 A>G in exon 9 of the MBD5 gene (NM_018328.4) The E163G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It 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 E163G 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 mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function, and to our knowledge, only deletions and frameshift mutations in MBD5 have been published in association with epilepsy. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in RETT-EPI panel(s).

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

Last Updated: Apr 23, 2022