NM_001110792.2(MECP2):c.789C>T (p.Pro263=) AND not provided

Clinical significance:Benign (Last evaluated: Dec 20, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000712284.4

Allele description [Variation Report for NM_001110792.2(MECP2):c.789C>T (p.Pro263=)]

NM_001110792.2(MECP2):c.789C>T (p.Pro263=)

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.789C>T (p.Pro263=)
HGVS:
  • NC_000023.11:g.154031075G>A
  • NG_007107.2:g.111053C>T
  • NG_007107.3:g.111029C>T
  • NM_001110792.2:c.789C>TMANE SELECT
  • NM_001316337.2:c.474C>T
  • NM_001369391.2:c.474C>T
  • NM_001369392.2:c.474C>T
  • NM_001369393.2:c.474C>T
  • NM_001369394.2:c.474C>T
  • NM_001386137.1:c.84C>T
  • NM_001386138.1:c.84C>T
  • NM_001386139.1:c.84C>T
  • NM_004992.4:c.753C>T
  • NP_001104262.1:p.Pro263=
  • NP_001303266.1:p.Pro158=
  • NP_001356320.1:p.Pro158=
  • NP_001356321.1:p.Pro158=
  • NP_001356322.1:p.Pro158=
  • NP_001356323.1:p.Pro158=
  • NP_001373066.1:p.Pro28=
  • NP_001373067.1:p.Pro28=
  • NP_001373068.1:p.Pro28=
  • NP_004983.1:p.Pro251=
  • NP_004983.1:p.Pro251=
  • LRG_764t1:c.789C>T
  • LRG_764t2:c.753C>T
  • AJ132917.1:c.753C>T
  • LRG_764:g.111029C>T
  • LRG_764p1:p.Pro263=
  • LRG_764p2:p.Pro251=
  • NC_000023.10:g.153296526G>A
  • NM_004992.3:c.753C>T
Links:
dbSNP: rs63582063
NCBI 1000 Genomes Browser:
rs63582063
Molecular consequence:
  • NM_001110792.2:c.789C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316337.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369391.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369392.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369393.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369394.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386137.1:c.84C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386138.1:c.84C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386139.1:c.84C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.4:c.753C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000842735Athena Diagnostics Inccriteria provided, single submitter
Benign
(Dec 20, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001941763GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B.

J Hum Genet. 2011 Mar;56(3):183-7. doi: 10.1038/jhg.2010.156. Epub 2010 Dec 16.

PubMed [citation]
PMID:
21160487

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ.

J Child Neurol. 2004 Jul;19(7):503-8.

PubMed [citation]
PMID:
15526954
See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics Inc, SCV000842735.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001941763.1

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

Last Updated: Dec 4, 2021

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