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NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 24, 2015
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:
RCV000421418.9

Allele description [Variation Report for NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)]

NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)

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.1448G>C (p.Arg483Thr)
Other names:
NM_001110792.2(MECP2):c.1448G>C; p.Arg483Thr
HGVS:
  • NC_000023.11:g.154030416C>G
  • NG_007107.3:g.111688G>C
  • NM_001110792.2:c.1448G>CMANE SELECT
  • NM_001316337.2:c.1133G>C
  • NM_001369391.2:c.1133G>C
  • NM_001369392.2:c.1133G>C
  • NM_001369393.2:c.1133G>C
  • NM_001369394.2:c.1133G>C
  • NM_001386137.1:c.743G>C
  • NM_001386138.1:c.743G>C
  • NM_001386139.1:c.743G>C
  • NM_004992.4:c.1412G>C
  • NP_001104262.1:p.Arg483Thr
  • NP_001303266.1:p.Arg378Thr
  • NP_001356320.1:p.Arg378Thr
  • NP_001356321.1:p.Arg378Thr
  • NP_001356322.1:p.Arg378Thr
  • NP_001356323.1:p.Arg378Thr
  • NP_001373066.1:p.Arg248Thr
  • NP_001373067.1:p.Arg248Thr
  • NP_001373068.1:p.Arg248Thr
  • NP_004983.1:p.Arg471Thr
  • NP_004983.1:p.Arg471Thr
  • LRG_764t1:c.1448G>C
  • LRG_764t2:c.1412G>C
  • LRG_764:g.111688G>C
  • LRG_764p1:p.Arg483Thr
  • LRG_764p2:p.Arg471Thr
  • NC_000023.10:g.153295867C>G
  • NG_007107.2:g.111712G>C
  • NM_004992.3:c.1412G>C
Protein change:
R248T
Links:
dbSNP: rs1057520310
NCBI 1000 Genomes Browser:
rs1057520310
Molecular consequence:
  • NM_001110792.2:c.1448G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.1133G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.1133G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.1133G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.1133G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.1133G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1412G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000513576GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Mar 24, 2015) 		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, SCV000513576.4

#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

Last Updated: Nov 3, 2024