NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) AND developmental delay with intractable seizures

Clinical significance:Uncertain significance (Last evaluated: Nov 14, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000678818.1

Allele description [Variation Report for NM_018328.4(MBD5):c.599G>A (p.Arg200Gln)]

NM_018328.4(MBD5):c.599G>A (p.Arg200Gln)

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_018328.4(MBD5):c.599G>A (p.Arg200Gln)
HGVS:
  • NC_000002.12:g.148468542G>A
  • NG_017003.1:g.452532G>A
  • NG_017003.2:g.452532G>A
  • NM_018328.4:c.599G>A
  • NP_060798.2:p.Arg200Gln
  • NC_000002.11:g.149226111G>A
Protein change:
R200Q
Links:
dbSNP: rs149278000
NCBI 1000 Genomes Browser:
rs149278000
Molecular consequence:
  • NM_018328.4:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
developmental delay with intractable seizures
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000805004Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedUncertain significance
(Nov 14, 2016)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000805004.1

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

Last Updated: Oct 16, 2021

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