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

Clinical significance:Benign (Last evaluated: Dec 21, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000169924.3

Allele description [Variation Report for NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)]

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_004992.3:c.1205C>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
  • 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_004992.3:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000170234GeneDxcriteria provided, single submitter
Benign
(May 29, 2013)
germlineclinical testing

Citation Link,

SCV000187946RettBASEno assertion criteria providedBenign
(Dec 20, 2002)
maternal, unknowncuration

PubMed (1)
[See all records that cite this PMID]

SCV000604150ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Dec 21, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedmaternalnot provided1not providednot provided1Yescuration
not providedunknownnot provided4not providednot provided4Yescuration

Citations

PubMed

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A; International Molecular Genetic Study of Autism Consortium (IMGSAC)..

Hum Genet. 2002 Oct;111(4-5):305-9. Epub 2002 Aug 14. Erratum in: Hum Genet. 2003 Apr;112(4):436.

PubMed [citation]
PMID:
12384770

Details of each submission

From GeneDx, SCV000170234.10

#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

From RettBASE, SCV000187946.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedYescuration PubMed (1)
2not provided1not providedYescuration PubMed (1)
3not provided1not providedYescuration PubMed (1)
4not provided1not providedYescuration PubMed (1)
5not provided1not providedYescuration PubMed (1)

Description

"Not Rett synd. - autism only"
"Not Rett synd. - autism only"
"Not Rett synd. - Unaffected family member"
"Not Rett synd. - Unaffected family member"
"Not Rett synd. - Unaffected family member"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnot provided1Bloodnot provided1not providednot providednot provided
2unknownnot provided1Bloodnot provided1not providednot providednot provided
3unknownnot provided1Bloodnot provided1not providednot providednot provided
4unknownnot provided1Bloodnot provided1not providednot providednot provided
5unknownnot provided1Bloodnot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604150.1

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

Last Updated: Nov 11, 2021

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