U.S. flag

An official website of the United States government

NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2016
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:
RCV000526298.6

Allele description

NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)

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.1241C>T (p.Pro414Leu)
Other names:
p.P402L:CCC>CTC
HGVS:
  • NC_000023.11:g.154030623G>A
  • NG_007107.2:g.111505C>T
  • NG_007107.3:g.111481C>T
  • NM_001110792.2:c.1241C>TMANE SELECT
  • NM_001316337.2:c.926C>T
  • NM_001369391.2:c.926C>T
  • NM_001369392.2:c.926C>T
  • NM_001369393.2:c.926C>T
  • NM_001369394.2:c.926C>T
  • NM_001386137.1:c.536C>T
  • NM_001386138.1:c.536C>T
  • NM_001386139.1:c.536C>T
  • NM_004992.4:c.1205C>T
  • NP_001104262.1:p.Pro414Leu
  • NP_001303266.1:p.Pro309Leu
  • NP_001356320.1:p.Pro309Leu
  • NP_001356321.1:p.Pro309Leu
  • NP_001356322.1:p.Pro309Leu
  • NP_001356323.1:p.Pro309Leu
  • NP_001373066.1:p.Pro179Leu
  • NP_001373067.1:p.Pro179Leu
  • NP_001373068.1:p.Pro179Leu
  • NP_004983.1:p.Pro402Leu
  • NP_004983.1:p.Pro402Leu
  • LRG_764t1:c.1241C>T
  • LRG_764t2:c.1205C>T
  • AJ132917.1:c.1205C>T
  • LRG_764:g.111481C>T
  • LRG_764p1:p.Pro414Leu
  • LRG_764p2:p.Pro402Leu
  • NC_000023.10:g.153296074G>A
  • NM_004992.3:c.1205C>T
  • P51608:p.Pro402Leu
Protein change:
P179L
Links:
UniProtKB: P51608#VAR_018221; dbSNP: rs61753014
NCBI 1000 Genomes Browser:
rs61753014
Molecular consequence:
  • NM_001110792.2:c.1241C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001156228CeGaT Praxis fuer Humangenetik Tuebingen
criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)		Uncertain significance
(Jun 1, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001156228.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021