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NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 2017
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:
RCV000515283.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)]

NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)

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.844C>T (p.Arg282Ter)
Other names:
NP_004983.1:p.Arg270*; p.R270*:CGA>TGA; NM_001110792.2(MECP2):c.844C>T; p.Arg282Ter
HGVS:
  • NC_000023.11:g.154031020G>A
  • NG_007107.3:g.111084C>T
  • NM_001110792.2:c.844C>TMANE SELECT
  • NM_001316337.2:c.529C>T
  • NM_001369391.2:c.529C>T
  • NM_001369392.2:c.529C>T
  • NM_001369393.2:c.529C>T
  • NM_001369394.2:c.529C>T
  • NM_001386137.1:c.139C>T
  • NM_001386138.1:c.139C>T
  • NM_001386139.1:c.139C>T
  • NM_004992.4:c.808C>T
  • NP_001104262.1:p.Arg282Ter
  • NP_001303266.1:p.Arg177Ter
  • NP_001356320.1:p.Arg177Ter
  • NP_001356321.1:p.Arg177Ter
  • NP_001356322.1:p.Arg177Ter
  • NP_001356323.1:p.Arg177Ter
  • NP_001373066.1:p.Arg47Ter
  • NP_001373067.1:p.Arg47Ter
  • NP_001373068.1:p.Arg47Ter
  • NP_004983.1:p.Arg270Ter
  • NP_004983.1:p.Arg270Ter
  • LRG_764t1:c.844C>T
  • LRG_764t2:c.808C>T
  • AJ132917.1:c.808C>T
  • LRG_764:g.111084C>T
  • LRG_764p1:p.Arg282Ter
  • LRG_764p2:p.Arg270Ter
  • NC_000023.10:g.153296471G>A
  • NG_007107.2:g.111108C>T
  • NM_001110792.1:c.844C>T
  • NM_001110792.2:c.844C>T
  • NM_001316337.2:c.529C>T
  • NM_004992.3:c.808C>T
  • p.(Arg270*)
  • p.Arg270X
Protein change:
R177*; ARG270TER
Links:
OMIM: 300005.0005; dbSNP: rs61750240
NCBI 1000 Genomes Browser:
rs61750240
Molecular consequence:
  • NM_001110792.2:c.844C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001316337.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369391.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369392.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369393.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369394.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386137.1:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386138.1:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001386139.1:c.139C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004992.4:c.808C>T - nonsense - [Sequence Ontology: SO:0001587]

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
Name:
Syndromic X-linked intellectual disability Lubs type (MRXSL)
Synonyms:
MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; Lubs X-linked mental retardation syndrome; XLMR syndrome, Lubs type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010283; MedGen: C1846058; OMIM: 300260
Name:
X-linked intellectual disability-psychosis-macroorchidism syndrome (MRXS13)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; PPM-X syndrome
Identifiers:
MONDO: MONDO:0010235; MedGen: C0796222; Orphanet: 3077; OMIM: 300055
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
Name:
Autism, susceptibility to, X-linked 3 (AUTSX3)
Synonyms:
Austism susceptibility, X-linked; Autism susceptibility, X-linked 3
Identifiers:
MONDO: MONDO:0010342; MedGen: C1845336; OMIM: 300496

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611282Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 18, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV000611282.1

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

Last Updated: Nov 10, 2024