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NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) AND MECP2-related disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 30, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004532610.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)]

NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)

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.719C>G (p.Thr240Ser)
Other names:
NM_001110792.2(MECP2):c.719C>G; p.Thr240Ser
HGVS:
  • NC_000023.11:g.154031145G>C
  • NG_007107.3:g.110959C>G
  • NM_001110792.2:c.719C>GMANE SELECT
  • NM_001316337.2:c.404C>G
  • NM_001369391.2:c.404C>G
  • NM_001369392.2:c.404C>G
  • NM_001369393.2:c.404C>G
  • NM_001369394.2:c.404C>G
  • NM_001386137.1:c.14C>G
  • NM_001386138.1:c.14C>G
  • NM_001386139.1:c.14C>G
  • NM_004992.4:c.683C>G
  • NP_001104262.1:p.Thr240Ser
  • NP_001303266.1:p.Thr135Ser
  • NP_001356320.1:p.Thr135Ser
  • NP_001356321.1:p.Thr135Ser
  • NP_001356322.1:p.Thr135Ser
  • NP_001356323.1:p.Thr135Ser
  • NP_001373066.1:p.Thr5Ser
  • NP_001373067.1:p.Thr5Ser
  • NP_001373068.1:p.Thr5Ser
  • NP_004983.1:p.Thr228Ser
  • NP_004983.1:p.Thr228Ser
  • LRG_764t1:c.719C>G
  • LRG_764t2:c.683C>G
  • AJ132917.1:c.683C>G
  • LRG_764:g.110959C>G
  • LRG_764p1:p.Thr240Ser
  • LRG_764p2:p.Thr228Ser
  • NC_000023.10:g.153296596G>C
  • NG_007107.2:g.110983C>G
  • NM_001110792.1:c.719C>G
  • NM_004992.3:c.683C>G
  • P51608:p.Thr228Ser
Protein change:
T135S
Links:
UniProtKB: P51608#VAR_018199; dbSNP: rs61749738
NCBI 1000 Genomes Browser:
rs61749738
Molecular consequence:
  • NM_001110792.2:c.719C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.404C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.14C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.14C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.14C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.683C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MECP2-related disorder
Synonyms:
MECP2-Related Disorders; MECP2-related condition
Identifiers:
MedGen: C5880921

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004738515PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Benign
(Jun 30, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004738515.2

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

Description

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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

Last Updated: Nov 10, 2024