NM_001110792.2(MECP2):c.756C>T (p.Thr252=) AND not specified

Clinical significance:Likely benign (Last evaluated: Jun 25, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000133211.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.756C>T (p.Thr252=)]

NM_001110792.2(MECP2):c.756C>T (p.Thr252=)

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.756C>T (p.Thr252=)
HGVS:
  • NC_000023.11:g.154031108G>A
  • NG_007107.2:g.111020C>T
  • NG_007107.3:g.110996C>T
  • NM_001110792.2:c.756C>TMANE SELECT
  • NM_001316337.2:c.441C>T
  • NM_001369391.2:c.441C>T
  • NM_001369392.2:c.441C>T
  • NM_001369393.2:c.441C>T
  • NM_001369394.2:c.441C>T
  • NM_001386137.1:c.51C>T
  • NM_001386138.1:c.51C>T
  • NM_001386139.1:c.51C>T
  • NM_004992.3:c.720C>T
  • NM_004992.4:c.720C>T
  • NP_001104262.1:p.Thr252=
  • NP_001303266.1:p.Thr147=
  • NP_001356320.1:p.Thr147=
  • NP_001356321.1:p.Thr147=
  • NP_001356322.1:p.Thr147=
  • NP_001356323.1:p.Thr147=
  • NP_001373066.1:p.Thr17=
  • NP_001373067.1:p.Thr17=
  • NP_001373068.1:p.Thr17=
  • NP_004983.1:p.Thr240=
  • NP_004983.1:p.Thr240=
  • LRG_764t1:c.756C>T
  • LRG_764t2:c.720C>T
  • AJ132917.1:c.720C>T
  • LRG_764:g.110996C>T
  • LRG_764p1:p.Thr252=
  • LRG_764p2:p.Thr240=
  • NC_000023.10:g.153296559G>A
Links:
dbSNP: rs61749746
NCBI 1000 Genomes Browser:
rs61749746
Molecular consequence:
  • NM_001110792.2:c.756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316337.2:c.441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369391.2:c.441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369392.2:c.441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369393.2:c.441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369394.2:c.441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386137.1:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386138.1:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386139.1:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.3:c.720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.4:c.720C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188209RettBASEno assertion criteria providedBenign
(Feb 3, 2006)
paternal, unknowncuration

SCV000724296GeneDxcriteria provided, single submitter
Likely benign
(Nov 2, 2017)
germlineclinical testing

Citation Link,

SCV001362258Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Jun 25, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot provided1not providednot provided1not providedcuration
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedpaternalnot provided1not providednot provided1not providedcuration

Details of each submission

From RettBASE, SCV000188209.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcurationnot provided
2not provided1not providednot providedcurationnot provided

Description

Not known

Not Rett synd. - Unaffected family member

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalnot provided1Blood or skinnot provided1not providednot providednot provided
2unknownnot provided1Blood or skinnot provided1not providednot providednot provided

From GeneDx, SCV000724296.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362258.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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