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NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) AND Rett syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 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:
RCV002244934.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu)]

NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu)

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.563C>T (p.Pro188Leu)
HGVS:
  • NC_000023.11:g.154031301G>A
  • NG_007107.3:g.110803C>T
  • NM_001110792.2:c.563C>TMANE SELECT
  • NM_001316337.2:c.248C>T
  • NM_001369391.2:c.248C>T
  • NM_001369392.2:c.248C>T
  • NM_001369393.2:c.248C>T
  • NM_001369394.2:c.248C>T
  • NM_001386137.1:c.-128-15C>T
  • NM_001386138.1:c.-128-15C>T
  • NM_001386139.1:c.-128-15C>T
  • NM_004992.4:c.527C>T
  • NP_001104262.1:p.Pro188Leu
  • NP_001303266.1:p.Pro83Leu
  • NP_001356320.1:p.Pro83Leu
  • NP_001356321.1:p.Pro83Leu
  • NP_001356322.1:p.Pro83Leu
  • NP_001356323.1:p.Pro83Leu
  • NP_004983.1:p.Pro176Leu
  • NP_004983.1:p.Pro176Leu
  • LRG_764t1:c.563C>T
  • LRG_764t2:c.527C>T
  • LRG_764:g.110803C>T
  • LRG_764p1:p.Pro188Leu
  • LRG_764p2:p.Pro176Leu
  • NC_000023.10:g.153296752G>A
  • NG_007107.2:g.110827C>T
  • NM_004992.3:c.527C>T
Protein change:
P176L
Links:
dbSNP: rs61749701
NCBI 1000 Genomes Browser:
rs61749701
Molecular consequence:
  • NM_001386137.1:c.-128-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386138.1:c.-128-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386139.1:c.-128-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001110792.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rett syndrome (RTT)
Synonyms:
Autism, dementia, ataxia, and loss of purposeful hand use; 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
SCV002512291Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 6, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512291.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 7, 2023