U.S. flag

An official website of the United States government

NM_001110792.2(MECP2):c.400G>A (p.Val134Met) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2016
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:
RCV000254852.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.400G>A (p.Val134Met)]

NM_001110792.2(MECP2):c.400G>A (p.Val134Met)

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.400G>A (p.Val134Met)
Other names:
NM_001110792.2(MECP2):c.400G>A; p.Val134Met
HGVS:
  • NC_000023.11:g.154032220C>T
  • NG_007107.3:g.109884G>A
  • NM_001110792.2:c.400G>AMANE SELECT
  • NM_001316337.2:c.85G>A
  • NM_001369391.2:c.85G>A
  • NM_001369392.2:c.85G>A
  • NM_001369393.2:c.85G>A
  • NM_001369394.2:c.85G>A
  • NM_001386137.1:c.-197G>A
  • NM_001386138.1:c.-197G>A
  • NM_001386139.1:c.-197G>A
  • NM_004992.4:c.364G>A
  • NP_001104262.1:p.Val134Met
  • NP_001303266.1:p.Val29Met
  • NP_001356320.1:p.Val29Met
  • NP_001356321.1:p.Val29Met
  • NP_001356322.1:p.Val29Met
  • NP_001356323.1:p.Val29Met
  • NP_004983.1:p.Val122Met
  • NP_004983.1:p.Val122Met
  • LRG_764t1:c.400G>A
  • LRG_764t2:c.364G>A
  • AJ132917.1:c.364G>A
  • LRG_764:g.109884G>A
  • LRG_764p1:p.Val134Met
  • LRG_764p2:p.Val122Met
  • NC_000023.10:g.153297671C>T
  • NG_007107.2:g.109908G>A
  • NM_004992.3:c.364G>A
Protein change:
V122M
Links:
dbSNP: rs267608455
NCBI 1000 Genomes Browser:
rs267608455
Molecular consequence:
  • NM_001386137.1:c.-197G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-197G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-197G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322257GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Aug 9, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000322257.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The V122M missense variant in the MECP2 gene has been reported previously as a de novo variant in a female patient with Rett syndrome (Li et al., 2007). The V122M variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V122M variant is a conservative amino acid substitution. This substitution alters a conserved position predicted to be part of the hydrophobic core within the mCpG-binding domain (MBD) of the MECP2 protein (Wakefield et al., 1999). A different missense variant in the same codon (V122A) as well as multiple missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with MECP2-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024