Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
Jan 30, 2020
Accession:
VCV000095203.3
Variation ID:
95203
Description:
single nucleotide variant
Help

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

Allele ID
101103
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154031013 (GRCh38) GRCh38 UCSC
X: 153296464 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153296464G>A
LRG_764:g.111091C>T
LRG_764t1:c.851C>T LRG_764p1:p.Pro284Leu
... more HGVS
Protein change
P272L, P284L, P179L, P49L
Other names
-
Canonical SPDI
NC_000023.11:154031012:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00008
The Genome Aggregation Database (gnomAD) 0.00009
1000 Genomes Project 0.00026
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD) 0.00023
Links
ClinGen: CA148325
dbSNP: rs61750243
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Oct 11, 2013 RCV000081213.8
Benign 1 criteria provided, single submitter Jan 30, 2020 RCV001522063.1
Likely benign 1 criteria provided, single submitter Apr 3, 2018 RCV001704000.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MECP2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1341 1603

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 11, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113121.8
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
http://mecp2.chw.edu.au/
Benign
(Jan 30, 2020)
criteria provided, single submitter
Method: clinical testing
Severe neonatal-onset encephalopathy with microcephaly
Allele origin: germline
Invitae
Accession: SCV001731529.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 03, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000513564.4
Submitted: (Sep 25, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 16376510, 17387578)
Benign
(Mar 10, 2010)
no assertion criteria provided
Method: curation
Not specified
Allele origin: unknown, paternal
RettBASE
Accession: SCV000188250.2
Submitted: (Nov 21, 2014)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. Zahorakova D Journal of human genetics 2007 PMID: 17387578
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients. Moog U Brain & development 2006 PMID: 16376510
http://mecp2.chw.edu.au/ - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MECP2 - - - -

Text-mined citations for rs61750243...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021