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NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 30, 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:
RCV001719898.10

Allele description [Variation Report for NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)]

NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)

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.1473G>A (p.Thr491=)
Other names:
p.T479T:ACG>ACA; NM_001110792.2(MECP2):c.1473G>A; p.Thr491=
HGVS:
  • NC_000023.11:g.154030391C>T
  • NG_007107.3:g.111713G>A
  • NM_001110792.2:c.1473G>AMANE SELECT
  • NM_001316337.2:c.1158G>A
  • NM_001369391.2:c.1158G>A
  • NM_001369392.2:c.1158G>A
  • NM_001369393.2:c.1158G>A
  • NM_001369394.2:c.1158G>A
  • NM_001386137.1:c.768G>A
  • NM_001386138.1:c.768G>A
  • NM_001386139.1:c.768G>A
  • NM_004992.4:c.1437G>A
  • NP_001104262.1:p.Thr491=
  • NP_001303266.1:p.Thr386=
  • NP_001356320.1:p.Thr386=
  • NP_001356321.1:p.Thr386=
  • NP_001356322.1:p.Thr386=
  • NP_001356323.1:p.Thr386=
  • NP_001373066.1:p.Thr256=
  • NP_001373067.1:p.Thr256=
  • NP_001373068.1:p.Thr256=
  • NP_004983.1:p.Thr479=
  • NP_004983.1:p.Thr479=
  • LRG_764t1:c.1473G>A
  • LRG_764t2:c.1437G>A
  • LRG_764:g.111713G>A
  • LRG_764p1:p.Thr491=
  • LRG_764p2:p.Thr479=
  • NC_000023.10:g.153295842C>T
  • NG_007107.2:g.111737G>A
  • NM_004992.3:c.1437G>A
  • NP_004983.1:p.(=)
Links:
dbSNP: rs587781033
NCBI 1000 Genomes Browser:
rs587781033
Molecular consequence:
  • NM_001110792.2:c.1473G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316337.2:c.1158G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369391.2:c.1158G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369392.2:c.1158G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369393.2:c.1158G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369394.2:c.1158G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386137.1:c.768G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386138.1:c.768G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386139.1:c.768G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.4:c.1437G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000170238GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(May 30, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000170238.9

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

Description

This variant is associated with the following publications: (PMID: 23262346)

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

Last Updated: Nov 3, 2024