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NM_001110792.2(MECP2):c.414-42A>G AND Rett syndrome

Germline classification:
Likely benign (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:
RCV000172867.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.414-42A>G]

NM_001110792.2(MECP2):c.414-42A>G

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.414-42A>G
HGVS:
  • NC_000023.11:g.154031492T>C
  • NG_007107.2:g.110636A>G
  • NG_007107.3:g.110612A>G
  • NM_001110792.2:c.414-42A>GMANE SELECT
  • NM_001316337.2:c.99-42A>G
  • NM_001369391.2:c.99-42A>G
  • NM_001369392.2:c.99-42A>G
  • NM_001369393.2:c.99-42A>G
  • NM_001369394.2:c.99-42A>G
  • NM_001386137.1:c.-183-42A>G
  • NM_001386138.1:c.-183-42A>G
  • NM_001386139.1:c.-183-42A>G
  • NM_004992.4:c.378-42A>G
  • LRG_764t1:c.414-42A>G
  • LRG_764t2:c.378-42A>G
  • LRG_764:g.110612A>G
  • NC_000023.10:g.153296943T>C
  • NM_004992.3:c.378-42A>G
Links:
dbSNP: rs786205893
NCBI 1000 Genomes Browser:
rs786205893
Molecular consequence:
  • NM_001110792.2:c.414-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001316337.2:c.99-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369391.2:c.99-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369392.2:c.99-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369393.2:c.99-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369394.2:c.99-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386137.1:c.-183-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386138.1:c.-183-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386139.1:c.-183-42A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004992.4:c.378-42A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223854Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benignmaternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalno21not 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 Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics, SCV000223854.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnonot providednot providednot provided2not provided1not provided

Last Updated: Sep 17, 2022