NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) AND Rett syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 30, 2015
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:: RCV000225601.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)]

NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)

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.714T>G (p.Phe238Leu)

HGVS:

NC_000023.11:g.154031150A>C
NG_007107.2:g.110978T>G
NG_007107.3:g.110954T>G
NM_001110792.2:c.714T>GMANE SELECT
NM_001316337.2:c.399T>G
NM_001369391.2:c.399T>G
NM_001369392.2:c.399T>G
NM_001369393.2:c.399T>G
NM_001369394.2:c.399T>G
NM_001386137.1:c.9T>G
NM_001386138.1:c.9T>G
NM_001386139.1:c.9T>G
NM_004992.4:c.678T>G
NP_001104262.1:p.Phe238Leu
NP_001303266.1:p.Phe133Leu
NP_001356320.1:p.Phe133Leu
NP_001356321.1:p.Phe133Leu
NP_001356322.1:p.Phe133Leu
NP_001356323.1:p.Phe133Leu
NP_001373066.1:p.Phe3Leu
NP_001373067.1:p.Phe3Leu
NP_001373068.1:p.Phe3Leu
NP_004983.1:p.Phe226Leu
NP_004983.1:p.Phe226Leu
LRG_764t1:c.714T>G
LRG_764t2:c.678T>G
LRG_764:g.110954T>G
LRG_764p1:p.Phe238Leu
LRG_764p2:p.Phe226Leu
NC_000023.10:g.153296601A>C
NM_004992.3:c.678T>G

Protein change:

F133L

Links:

dbSNP: rs878853313

NCBI 1000 Genomes Browser:

rs878853313

Molecular consequence:

NM_001110792.2:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.399T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.9T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.9T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.9T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.678T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rett syndrome (RTT)
Synonyms:: Autism, dementia, ataxia, and loss of purposeful hand use; MECP2-Related Disorders; Rett's disorder
Identifiers:: MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

Recent activity

Clear Turn Off Turn On

Racomitrium lanuginosum isolate JC1469 internal transcribed spacer 1, partial se...
Racomitrium lanuginosum isolate JC1469 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|2040833038|gb|MZ227187.1|

Nucleotide
NADH dehydrogenase subunit 5, partial (mitochondrion) [Rhynchostegium conostomum...
NADH dehydrogenase subunit 5, partial (mitochondrion) [Rhynchostegium conostomum]
gi|67036678|gb|AAY63246.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000282494	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 30, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282494

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 30, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000282494.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The variant of interest causes a missense change involving a non-conserved nucleotide with 3/4 in silico programs predicting a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, ESP, or 1000 Gs), nor has it been reported in affected individuals via publications and/or reputable databases/clinical laboratories. The variant is classified as a variant of uncertain significance until additional information becomes available.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 17, 2022

ClinVar

Relating variation to medicine