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NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 12, 2019
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:
RCV002371770.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)]

NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)

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.1318G>A (p.Gly440Ser)
Other names:
NM_001110792.2(MECP2):c.1318G>A; p.Gly440Ser
HGVS:
  • NC_000023.11:g.154030546C>T
  • NG_007107.3:g.111558G>A
  • NM_001110792.2:c.1318G>AMANE SELECT
  • NM_001316337.2:c.1003G>A
  • NM_001369391.2:c.1003G>A
  • NM_001369392.2:c.1003G>A
  • NM_001369393.2:c.1003G>A
  • NM_001369394.2:c.1003G>A
  • NM_001386137.1:c.613G>A
  • NM_001386138.1:c.613G>A
  • NM_001386139.1:c.613G>A
  • NM_004992.4:c.1282G>A
  • NP_001104262.1:p.Gly440Ser
  • NP_001303266.1:p.Gly335Ser
  • NP_001356320.1:p.Gly335Ser
  • NP_001356321.1:p.Gly335Ser
  • NP_001356322.1:p.Gly335Ser
  • NP_001356323.1:p.Gly335Ser
  • NP_001373066.1:p.Gly205Ser
  • NP_001373067.1:p.Gly205Ser
  • NP_001373068.1:p.Gly205Ser
  • NP_004983.1:p.Gly428Ser
  • NP_004983.1:p.Gly428Ser
  • LRG_764t1:c.1318G>A
  • LRG_764t2:c.1282G>A
  • AJ132917.1:c.1282G>A
  • LRG_764:g.111558G>A
  • LRG_764p1:p.Gly440Ser
  • LRG_764p2:p.Gly428Ser
  • NC_000023.10:g.153295997C>T
  • NG_007107.2:g.111582G>A
  • NM_004992.3:c.1282G>A
  • P51608:p.Gly428Ser
Protein change:
G205S; GLY428SER
Links:
UniProtKB: P51608#VAR_017463; OMIM: 300005.0023; dbSNP: rs61753971
NCBI 1000 Genomes Browser:
rs61753971
Molecular consequence:
  • NM_001110792.2:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1282G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002689596Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 12, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

Imessaoudene B, Bonnefont JP, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J.

J Med Genet. 2001 Mar;38(3):171-4.

PubMed [citation]
PMID:
11238684
PMCID:
PMC1734835

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

Laccone F, Zoll B, Huppke P, Hanefeld F, Pepinski W, Trappe R.

J Med Genet. 2002 Aug;39(8):586-8. No abstract available.

PubMed [citation]
PMID:
12161600
PMCID:
PMC1735194

Details of each submission

From Ambry Genetics, SCV002689596.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jun 9, 2024