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NM_001110792.2(MECP2):c.605G>A (p.Arg202His) AND Rett syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000662350.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.605G>A (p.Arg202His)]

NM_001110792.2(MECP2):c.605G>A (p.Arg202His)

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.605G>A (p.Arg202His)
Other names:
NM_004992.3:c.569G>A;p.(Arg190His); ChrX:153296710C>T; NM_001110792.1:c.605G>A;p.(Arg202His)
HGVS:
  • NC_000023.11:g.154031259C>T
  • NG_007107.2:g.110869G>A
  • NG_007107.3:g.110845G>A
  • NM_001110792.2:c.605G>AMANE SELECT
  • NM_001316337.2:c.290G>A
  • NM_001369391.2:c.290G>A
  • NM_001369392.2:c.290G>A
  • NM_001369393.2:c.290G>A
  • NM_001369394.2:c.290G>A
  • NM_001386137.1:c.-101G>A
  • NM_001386138.1:c.-101G>A
  • NM_001386139.1:c.-101G>A
  • NM_004992.4:c.569G>A
  • NP_001104262.1:p.Arg202His
  • NP_001303266.1:p.Arg97His
  • NP_001356320.1:p.Arg97His
  • NP_001356321.1:p.Arg97His
  • NP_001356322.1:p.Arg97His
  • NP_001356323.1:p.Arg97His
  • NP_004983.1:p.Arg190His
  • NP_004983.1:p.Arg190His
  • LRG_764t1:c.605G>A
  • LRG_764t2:c.569G>A
  • LRG_764:g.110845G>A
  • LRG_764p1:p.Arg202His
  • LRG_764p2:p.Arg190His
  • NC_000023.10:g.153296710C>T
  • NM_001110792.1:c.605G>A
  • NM_004992.3:c.569G>A
Protein change:
R190H
Links:
dbSNP: rs1557136818
NCBI 1000 Genomes Browser:
rs1557136818
Molecular consequence:
  • NM_001386137.1:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein interaction [Variation Ontology: 0058]

Condition(s)

Name:
Rett syndrome (RTT)
Synonyms:
Autism, dementia, ataxia, and loss of purposeful hand use; MECP2-Related Disorders; Rett's disorder
Identifiers:
MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000678262Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health
    criteria provided, single submitter

    (Submitter's publication)    		Likely pathogenicinheritedresearch

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    Pakistaniinheritedyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

    Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, et al.

    Mol Psychiatry. 2018 Apr;23(4):973-984. doi: 10.1038/mp.2017.60. Epub 2017 Apr 11.

    PubMed [citation]
    PMID:
    28397838

    Details of each submission

    From Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health, SCV000678262.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1Pakistaninot providednot providednot providedresearch PubMed (1)

    Description

    Variant inherited in family, segregates with childhood cognitive regression/intellectual disability with or without childhood onset schizophrenia. Cognitive regression reported after 5 years in a male affected, and after 9 years in females. Adult onset schizophrenia is also present in the family, without cognitive regression, but does not segregate with variant. It cannot be concluded with certainty that the schizophrenia is a result of this variant. This same variant has also recently been reported de novo in a 9 year old girl with a diagnosis of atypical Rett, with cognitive regression and regression of speech and fine motor function after 5 years (PMID: 29137252)

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

    Last Updated: Sep 17, 2022