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NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 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:
RCV000996058.23

Allele description [Variation Report for NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln)]

NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln)

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.679A>C (p.Lys227Gln)
HGVS:
  • NC_000023.11:g.154031185T>G
  • NG_007107.3:g.110919A>C
  • NM_001110792.2:c.679A>CMANE SELECT
  • NM_001316337.2:c.364A>C
  • NM_001369391.2:c.364A>C
  • NM_001369392.2:c.364A>C
  • NM_001369393.2:c.364A>C
  • NM_001369394.2:c.364A>C
  • NM_001386137.1:c.-27A>C
  • NM_001386138.1:c.-27A>C
  • NM_001386139.1:c.-27A>C
  • NM_004992.4:c.643A>C
  • NP_001104262.1:p.Lys227Gln
  • NP_001303266.1:p.Lys122Gln
  • NP_001356320.1:p.Lys122Gln
  • NP_001356321.1:p.Lys122Gln
  • NP_001356322.1:p.Lys122Gln
  • NP_001356323.1:p.Lys122Gln
  • NP_004983.1:p.Lys215Gln
  • LRG_764t1:c.679A>C
  • LRG_764t2:c.643A>C
  • LRG_764:g.110919A>C
  • LRG_764p1:p.Lys227Gln
  • LRG_764p2:p.Lys215Gln
  • NC_000023.10:g.153296636T>G
  • NG_007107.2:g.110943A>C
Protein change:
K122Q
Links:
dbSNP: rs377324117
NCBI 1000 Genomes Browser:
rs377324117
Molecular consequence:
  • NM_001386137.1:c.-27A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-27A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-27A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.364A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.364A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.364A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.364A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.364A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.643A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001150515CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Jul 1, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001150515.27

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 20, 2024