NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) AND not specified

Clinical significance:Benign (Last evaluated: Oct 11, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000081213.8

Allele description [Variation Report for NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)]

NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu)

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.851C>T (p.Pro284Leu)
HGVS:
  • NC_000023.11:g.154031013G>A
  • NG_007107.2:g.111115C>T
  • NG_007107.3:g.111091C>T
  • NM_001110792.2:c.851C>TMANE SELECT
  • NM_001316337.2:c.536C>T
  • NM_001369391.2:c.536C>T
  • NM_001369392.2:c.536C>T
  • NM_001369393.2:c.536C>T
  • NM_001369394.2:c.536C>T
  • NM_001386137.1:c.146C>T
  • NM_001386138.1:c.146C>T
  • NM_001386139.1:c.146C>T
  • NM_004992.3:c.815C>T
  • NM_004992.4:c.815C>T
  • NP_001104262.1:p.Pro284Leu
  • NP_001303266.1:p.Pro179Leu
  • NP_001356320.1:p.Pro179Leu
  • NP_001356321.1:p.Pro179Leu
  • NP_001356322.1:p.Pro179Leu
  • NP_001356323.1:p.Pro179Leu
  • NP_001373066.1:p.Pro49Leu
  • NP_001373067.1:p.Pro49Leu
  • NP_001373068.1:p.Pro49Leu
  • NP_004983.1:p.Pro272Leu
  • NP_004983.1:p.Pro272Leu
  • LRG_764t1:c.851C>T
  • LRG_764t2:c.815C>T
  • AJ132917.1:c.815C>T
  • LRG_764:g.111091C>T
  • LRG_764p1:p.Pro284Leu
  • LRG_764p2:p.Pro272Leu
  • NC_000023.10:g.153296464G>A
Protein change:
P179L
Links:
dbSNP: rs61750243
NCBI 1000 Genomes Browser:
rs61750243
Molecular consequence:
  • NM_001110792.2:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.3:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000113121EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 11, 2013)
germlineclinical testing

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

Citation Link,

SCV000188250RettBASEno assertion criteria providedBenign
(Mar 10, 2010)
paternal, unknowncuration

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedpaternalnot provided3not providednot provided3Nocuration
not providedunknownnot provided5not providednot provided5Nocuration

Citations

PubMed

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.

Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C.

Brain Dev. 2006 Jun;28(5):305-10. Epub 2006 Jan 10.

PubMed [citation]
PMID:
16376510

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P.

J Hum Genet. 2007;52(4):342-348. doi: 10.1007/s10038-007-0121-x. Epub 2007 Feb 15.

PubMed [citation]
PMID:
17387578

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000113121.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From RettBASE, SCV000188250.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedNocuration PubMed (2)
2not provided1not providedNocuration PubMed (2)
3not provided1not providednot providedcuration PubMed (2)
4not provided1not providedNocuration PubMed (2)
5not provided1not providednot providedcuration PubMed (2)
6not provided1not providedNocuration PubMed (2)
7not provided1not providednot providedcuration PubMed (2)
8not provided1not providednot providedcuration PubMed (2)

Description

Not Rett synd. - Unaffected family member

Not Rett synd. - Unaffected family member

Rett syndrome - Atypical

Rett syndrome - Not certain

"Not Rett synd. - mental retardation"
"Rett syndrome - Classical"
"Not Rett synd. - unaffected family member"
"Not Rett synd. - unaffected family member"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1Bloodnot provided1not providednot providednot provided
2unknownnot provided1Bloodnot provided1not providednot providednot provided
3unknownnot provided1Blood or skinnot provided1not providednot providednot provided
4paternalnot provided1Bloodnot provided1not providednot providednot provided
5unknownnot provided1bloodnot provided1not providednot providednot provided
6paternalnot provided1bloodnot provided1not providednot providednot provided
7paternalnot provided1bloodnot provided1not providednot providednot provided
8unknownnot provided1bloodnot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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