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NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 2020
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:
RCV000144810.5

Allele description [Variation Report for NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)]

NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)

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.604C>T (p.Arg202Cys)
Other names:
p.R190C:CGC>TGC; NM_001110792.2(MECP2):c.604C>T; p.Arg202Cys
HGVS:
  • NC_000023.11:g.154031260G>A
  • NG_007107.3:g.110844C>T
  • NM_001110792.2:c.604C>TMANE SELECT
  • NM_001316337.2:c.289C>T
  • NM_001369391.2:c.289C>T
  • NM_001369392.2:c.289C>T
  • NM_001369393.2:c.289C>T
  • NM_001369394.2:c.289C>T
  • NM_001386137.1:c.-102C>T
  • NM_001386138.1:c.-102C>T
  • NM_001386139.1:c.-102C>T
  • NM_004992.4:c.568C>T
  • NP_001104262.1:p.Arg202Cys
  • NP_001303266.1:p.Arg97Cys
  • NP_001356320.1:p.Arg97Cys
  • NP_001356321.1:p.Arg97Cys
  • NP_001356322.1:p.Arg97Cys
  • NP_001356323.1:p.Arg97Cys
  • NP_004983.1:p.Arg190Cys
  • NP_004983.1:p.Arg190Cys
  • LRG_764t1:c.604C>T
  • LRG_764t2:c.568C>T
  • LRG_764:g.110844C>T
  • LRG_764p1:p.Arg202Cys
  • LRG_764p2:p.Arg190Cys
  • NC_000023.10:g.153296711G>A
  • NC_000023.10:g.153296711G>A
  • NG_007107.2:g.110868C>T
  • NM_004992.3:c.568C>T
Protein change:
R190C
Links:
dbSNP: rs587783137
NCBI 1000 Genomes Browser:
rs587783137
Molecular consequence:
  • NM_001386137.1:c.-102C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-102C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-102C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.604C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.568C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000191042GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 30, 2020) 		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, SCV000191042.14

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

Description

De novo variant with confirmed parentage in a patient with schizophrenia in published literature, using alternate nomenclature R202C (McCarthy et al., 2014); Published functional studies suggest that R190C is damaging to MECP2 function in vitro and in cell lines (Sheikh et al., 2018); This variant is associated with the following publications: (PMID: 24776741, 29431277, 29655203)

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

Last Updated: Oct 13, 2024