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NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) AND Rett syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 30, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000415409.8

Allele description [Variation Report for NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys)]

NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys)

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.368G>A (p.Arg123Lys)
HGVS:
  • NC_000023.11:g.154032252C>T
  • NG_007107.3:g.109852G>A
  • NM_001110792.2:c.368G>AMANE SELECT
  • NM_001316337.2:c.53G>A
  • NM_001369391.2:c.53G>A
  • NM_001369392.2:c.53G>A
  • NM_001369393.2:c.53G>A
  • NM_001369394.2:c.53G>A
  • NM_001386137.1:c.-229G>A
  • NM_001386138.1:c.-229G>A
  • NM_001386139.1:c.-229G>A
  • NM_004992.4:c.332G>A
  • NP_001104262.1:p.Arg123Lys
  • NP_001303266.1:p.Arg18Lys
  • NP_001356320.1:p.Arg18Lys
  • NP_001356321.1:p.Arg18Lys
  • NP_001356322.1:p.Arg18Lys
  • NP_001356323.1:p.Arg18Lys
  • NP_004983.1:p.Arg111Lys
  • NP_004983.1:p.Arg111Lys
  • LRG_764t1:c.368G>A
  • LRG_764t2:c.332G>A
  • LRG_764:g.109852G>A
  • LRG_764p1:p.Arg123Lys
  • LRG_764p2:p.Arg111Lys
  • NC_000023.10:g.153297703C>T
  • NG_007107.2:g.109876G>A
  • NM_004992.3:c.332G>A
Protein change:
R111K
Links:
dbSNP: rs1057518718
NCBI 1000 Genomes Browser:
rs1057518718
Molecular consequence:
  • NM_001386137.1:c.-229G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-229G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-229G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000328837Baylor Genetics
no assertion criteria provided
Likely pathogenic
(Jun 30, 2014) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanic Americansde novoyes11not providednot providednot providedclinical testing

Details of each submission

From Baylor Genetics, SCV000328837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic Americans1not providednot providedclinical testing
(GTR000508680.4)		not provided

Description

Our laboratory reported dual molecular diagnoses in F7 (NM_000131.4, c.1285G>A) and MECP2 (NM_004992.3, c.332G>A) in this individual with reported features of motor delay, intellectual disability, hypotonia, bilateral sensorineural hearing loss, skeletal abnormalities, hypertrichosis, and factor VII deficiency.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided
(GTR000508680.4)		1not provided1not provided

Last Updated: Nov 3, 2024