NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) AND Severe neonatal-onset encephalopathy with microcephaly

Clinical significance:Pathogenic (Last evaluated: Sep 13, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000754784.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)]

NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)

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.941C>T (p.Pro314Leu)
HGVS:
  • NC_000023.11:g.154030923G>A
  • NG_007107.2:g.111205C>T
  • NG_007107.3:g.111181C>T
  • NM_001110792.2:c.941C>TMANE SELECT
  • NM_001316337.2:c.626C>T
  • NM_001369391.2:c.626C>T
  • NM_001369392.2:c.626C>T
  • NM_001369393.2:c.626C>T
  • NM_001369394.2:c.626C>T
  • NM_001386137.1:c.236C>T
  • NM_001386138.1:c.236C>T
  • NM_001386139.1:c.236C>T
  • NM_004992.3:c.905C>T
  • NM_004992.4:c.905C>T
  • NP_001104262.1:p.Pro314Leu
  • NP_001303266.1:p.Pro209Leu
  • NP_001356320.1:p.Pro209Leu
  • NP_001356321.1:p.Pro209Leu
  • NP_001356322.1:p.Pro209Leu
  • NP_001356323.1:p.Pro209Leu
  • NP_001373066.1:p.Pro79Leu
  • NP_001373067.1:p.Pro79Leu
  • NP_001373068.1:p.Pro79Leu
  • NP_004983.1:p.Pro302Leu
  • NP_004983.1:p.Pro302Leu
  • LRG_764t1:c.941C>T
  • LRG_764t2:c.905C>T
  • AJ132917.1:c.905C>T
  • LRG_764:g.111181C>T
  • LRG_764p1:p.Pro314Leu
  • LRG_764p2:p.Pro302Leu
  • NC_000023.10:g.153296374G>A
  • NM_001110792.1:c.941C>T
  • P51608:p.Pro302Leu
Protein change:
P209L
Links:
UniProtKB: P51608#VAR_018208; dbSNP: rs61749723
NCBI 1000 Genomes Browser:
rs61749723
Molecular consequence:
  • NM_001110792.2:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.3:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.905C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Severe neonatal-onset encephalopathy with microcephaly
Synonyms:
Encephalopathy, neonatal severe; Encephalopathy, neonatal severe, due to MECP2 mutations
Identifiers:
MONDO: MONDO:0010397; MedGen: C1968556; Orphanet: 209370; OMIM: 300673

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000882666The Raphael Recanati Genetics Institute,Rabin Medical Centerno assertion criteria providedPathogenic
(Sep 13, 2018)
de novoclinical testing

Description

X-linked de novo

SCV000882666

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Muslim Arabsde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From The Raphael Recanati Genetics Institute,Rabin Medical Center, SCV000882666.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Muslim Arabs1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center