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NM_001110792.2(MECP2):c.*9G>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 2015
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:
RCV000678232.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.*9G>T]

NM_001110792.2(MECP2):c.*9G>T

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.*9G>T
HGVS:
  • NC_000023.11:g.154030358C>A
  • NG_007107.2:g.111770G>T
  • NG_007107.3:g.111746G>T
  • NM_001110792.2:c.*9G>TMANE SELECT
  • NM_001316337.2:c.*9G>T
  • NM_001369391.2:c.*9G>T
  • NM_001369392.2:c.*9G>T
  • NM_001369393.2:c.*9G>T
  • NM_001369394.2:c.*9G>T
  • NM_001386137.1:c.*9G>T
  • NM_001386138.1:c.*9G>T
  • NM_001386139.1:c.*9G>T
  • NM_004992.4:c.*9G>T
  • LRG_764t1:c.*9G>T
  • LRG_764t2:c.*9G>T
  • LRG_764:g.111746G>T
  • NC_000023.10:g.153295809C>A
  • NM_004992.3:c.*9G>T
Links:
dbSNP: rs144008995
NCBI 1000 Genomes Browser:
rs144008995
Molecular consequence:
  • NM_001110792.2:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001316337.2:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369391.2:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369392.2:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369393.2:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369394.2:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001386137.1:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001386138.1:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001386139.1:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004992.4:c.*9G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804252Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

See additional submitters

no assertion criteria provided
Uncertain significance
(Apr 3, 2015) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000804252.1

#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: Sep 17, 2022