NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) AND Severe neonatal-onset encephalopathy with microcephaly

Clinical significance:Benign (Last evaluated: Jan 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001522063.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)]

NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)

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.851C>T (p.Pro284Leu)
HGVS:
  • NC_000023.11:g.154031013G>A
  • NG_007107.2:g.111115C>T
  • NG_007107.3:g.111091C>T
  • NM_001110792.2:c.851C>TMANE SELECT
  • NM_001316337.2:c.536C>T
  • NM_001369391.2:c.536C>T
  • NM_001369392.2:c.536C>T
  • NM_001369393.2:c.536C>T
  • NM_001369394.2:c.536C>T
  • NM_001386137.1:c.146C>T
  • NM_001386138.1:c.146C>T
  • NM_001386139.1:c.146C>T
  • NM_004992.3:c.815C>T
  • NM_004992.4:c.815C>T
  • NP_001104262.1:p.Pro284Leu
  • NP_001303266.1:p.Pro179Leu
  • NP_001356320.1:p.Pro179Leu
  • NP_001356321.1:p.Pro179Leu
  • NP_001356322.1:p.Pro179Leu
  • NP_001356323.1:p.Pro179Leu
  • NP_001373066.1:p.Pro49Leu
  • NP_001373067.1:p.Pro49Leu
  • NP_001373068.1:p.Pro49Leu
  • NP_004983.1:p.Pro272Leu
  • NP_004983.1:p.Pro272Leu
  • LRG_764t1:c.851C>T
  • LRG_764t2:c.815C>T
  • AJ132917.1:c.815C>T
  • LRG_764:g.111091C>T
  • LRG_764p1:p.Pro284Leu
  • LRG_764p2:p.Pro272Leu
  • NC_000023.10:g.153296464G>A
Protein change:
P179L
Links:
dbSNP: rs61750243
NCBI 1000 Genomes Browser:
rs61750243
Molecular consequence:
  • NM_001110792.2:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.3:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001731529Invitaecriteria provided, single submitter
Benign
(Jan 30, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001731529.1

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

Last Updated: Nov 27, 2021

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