U.S. flag

An official website of the United States government

NM_001110792.2(MECP2):c.1134C>T (p.His378=) AND Rett syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2018
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:
RCV000660866.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.1134C>T (p.His378=)]

NM_001110792.2(MECP2):c.1134C>T (p.His378=)

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.1134C>T (p.His378=)
HGVS:
  • NC_000023.11:g.154030730G>A
  • NG_007107.3:g.111374C>T
  • NM_001110792.2:c.1134C>TMANE SELECT
  • NM_001316337.2:c.819C>T
  • NM_001369391.2:c.819C>T
  • NM_001369392.2:c.819C>T
  • NM_001369393.2:c.819C>T
  • NM_001369394.2:c.819C>T
  • NM_001386137.1:c.429C>T
  • NM_001386138.1:c.429C>T
  • NM_001386139.1:c.429C>T
  • NM_004992.4:c.1098C>T
  • NP_001104262.1:p.His378=
  • NP_001303266.1:p.His273=
  • NP_001356320.1:p.His273=
  • NP_001356321.1:p.His273=
  • NP_001356322.1:p.His273=
  • NP_001356323.1:p.His273=
  • NP_001373066.1:p.His143=
  • NP_001373067.1:p.His143=
  • NP_001373068.1:p.His143=
  • NP_004983.1:p.His366=
  • NP_004983.1:p.His366=
  • LRG_764t1:c.1134C>T
  • LRG_764t2:c.1098C>T
  • LRG_764:g.111374C>T
  • LRG_764p1:p.His378=
  • LRG_764p2:p.His366=
  • NC_000023.10:g.153296181G>A
  • NG_007107.2:g.111398C>T
  • NM_004992.3:c.1098C>T
Links:
dbSNP: rs1557135898
NCBI 1000 Genomes Browser:
rs1557135898
Molecular consequence:
  • NM_001110792.2:c.1134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316337.2:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369391.2:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369392.2:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369393.2:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369394.2:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386137.1:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386138.1:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386139.1:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.4:c.1098C>T - synonymous variant - [Sequence Ontology: SO:0001819]
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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778496Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jun 14, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000778496.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024