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NM_001110792.2(MECP2):c.953G>A (p.Arg318His) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 30, 2021
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:
RCV000256087.4

Allele description [Variation Report for NM_001110792.2(MECP2):c.953G>A (p.Arg318His)]

NM_001110792.2(MECP2):c.953G>A (p.Arg318His)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
Other names:
NM_001110792.2(MECP2):c.953G>A; p.Arg318His
HGVS:
  • NC_000023.11:g.154030911C>T
  • NG_007107.3:g.111193G>A
  • NM_001110792.2:c.953G>AMANE SELECT
  • NM_001316337.2:c.638G>A
  • NM_001369391.2:c.638G>A
  • NM_001369392.2:c.638G>A
  • NM_001369393.2:c.638G>A
  • NM_001369394.2:c.638G>A
  • NM_001386137.1:c.248G>A
  • NM_001386138.1:c.248G>A
  • NM_001386139.1:c.248G>A
  • NM_004992.4:c.917G>A
  • NP_001104262.1:p.Arg318His
  • NP_001303266.1:p.Arg213His
  • NP_001356320.1:p.Arg213His
  • NP_001356321.1:p.Arg213His
  • NP_001356322.1:p.Arg213His
  • NP_001356323.1:p.Arg213His
  • NP_001373066.1:p.Arg83His
  • NP_001373067.1:p.Arg83His
  • NP_001373068.1:p.Arg83His
  • NP_004983.1:p.Arg306His
  • NP_004983.1:p.Arg306His
  • LRG_764t1:c.953G>A
  • LRG_764t2:c.917G>A
  • AJ132917.1:c.917G>A
  • LRG_764:g.111193G>A
  • LRG_764p1:p.Arg318His
  • LRG_764p2:p.Arg306His
  • NC_000023.10:g.153296362C>T
  • NG_007107.2:g.111217G>A
  • NM_001110792.1:c.953G>A
  • NM_004992.3:c.917G>A
  • P51608:p.Arg306His
Protein change:
R213H
Links:
UniProtKB: P51608#VAR_018211; dbSNP: rs61751443
NCBI 1000 Genomes Browser:
rs61751443
Molecular consequence:
  • NM_001110792.2:c.953G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322254GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Mar 30, 2021)
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, SCV000322254.8

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies demonstrate that the p.R306H variant abolishes binding of MECP2 to DNA (Heckman et al., 2014); This variant is associated with the following publications: (PMID: 31780880, 11055898, 12655490, 11214906, 15057977, 16473305, 24970834, 10767337, 23921973)

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

Last Updated: Jun 23, 2024