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NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 3, 2006
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:
RCV000132850.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala)]

NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala)

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.1117C>G (p.Pro373Ala)
Other names:
NM_001110792.2(MECP2):c.1117C>G; p.Pro373Ala
HGVS:
  • NC_000023.11:g.154030747G>C
  • NG_007107.3:g.111357C>G
  • NM_001110792.2:c.1117C>GMANE SELECT
  • NM_001316337.2:c.802C>G
  • NM_001369391.2:c.802C>G
  • NM_001369392.2:c.802C>G
  • NM_001369393.2:c.802C>G
  • NM_001369394.2:c.802C>G
  • NM_001386137.1:c.412C>G
  • NM_001386138.1:c.412C>G
  • NM_001386139.1:c.412C>G
  • NM_004992.4:c.1081C>G
  • NP_001104262.1:p.Pro373Ala
  • NP_001303266.1:p.Pro268Ala
  • NP_001356320.1:p.Pro268Ala
  • NP_001356321.1:p.Pro268Ala
  • NP_001356322.1:p.Pro268Ala
  • NP_001356323.1:p.Pro268Ala
  • NP_001373066.1:p.Pro138Ala
  • NP_001373067.1:p.Pro138Ala
  • NP_001373068.1:p.Pro138Ala
  • NP_004983.1:p.Pro361Ala
  • NP_004983.1:p.Pro361Ala
  • LRG_764t1:c.1117C>G
  • LRG_764t2:c.1081C>G
  • AJ132917.1:c.1081C>G
  • LRG_764:g.111357C>G
  • LRG_764p1:p.Pro373Ala
  • LRG_764p2:p.Pro361Ala
  • NC_000023.10:g.153296198G>C
  • NG_007107.2:g.111381C>G
  • NM_004992.3:c.1081C>G
Protein change:
P138A
Links:
dbSNP: rs61752373
NCBI 1000 Genomes Browser:
rs61752373
Molecular consequence:
  • NM_001110792.2:c.1117C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1081C>G - 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
SCV000187829RettBASE
no assertion criteria provided
Uncertain significance
(Feb 3, 2006) 		maternal, unknowncuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalnot provided2not providednot provided2not providedcuration
not providedunknownnot provided2not providednot provided2not providedcuration

Details of each submission

From RettBASE, SCV000187829.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcurationnot provided
2not provided1not providednot providedcurationnot provided
3not provided1not providednot providedcurationnot provided
4not provided1not providednot providedcurationnot provided

Description

Not known

Not known

Not Rett synd. - Unaffected family member

Not Rett synd. - Unaffected family member

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnot provided1Blood or skinnot provided1not providednot providednot provided
2maternalnot provided1Blood or skinnot provided1not providednot providednot provided
3unknownnot provided1Blood or skinnot provided1not providednot providednot provided
4unknownnot provided1Blood or skinnot provided1not providednot providednot provided

Last Updated: Feb 28, 2024