NM_001110792.2(MECP2):c.978C>T (p.Ile326=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jun 22, 2017)

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:
RCV000133295.7

Allele description [Variation Report for NM_001110792.2(MECP2):c.978C>T (p.Ile326=)]

NM_001110792.2(MECP2):c.978C>T (p.Ile326=)

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.978C>T (p.Ile326=)
HGVS:
  • NC_000023.11:g.154030886G>A
  • NG_007107.2:g.111242C>T
  • NG_007107.3:g.111218C>T
  • NM_001110792.2:c.978C>TMANE SELECT
  • NM_001316337.2:c.663C>T
  • NM_001369391.2:c.663C>T
  • NM_001369392.2:c.663C>T
  • NM_001369393.2:c.663C>T
  • NM_001369394.2:c.663C>T
  • NM_001386137.1:c.273C>T
  • NM_001386138.1:c.273C>T
  • NM_001386139.1:c.273C>T
  • NM_004992.3:c.942C>T
  • NM_004992.4:c.942C>T
  • NP_001104262.1:p.Ile326=
  • NP_001303266.1:p.Ile221=
  • NP_001356320.1:p.Ile221=
  • NP_001356321.1:p.Ile221=
  • NP_001356322.1:p.Ile221=
  • NP_001356323.1:p.Ile221=
  • NP_001373066.1:p.Ile91=
  • NP_001373067.1:p.Ile91=
  • NP_001373068.1:p.Ile91=
  • NP_004983.1:p.Ile314=
  • NP_004983.1:p.Ile314=
  • LRG_764t1:c.978C>T
  • LRG_764t2:c.942C>T
  • AJ132917.1:c.942C>T
  • LRG_764:g.111218C>T
  • LRG_764p1:p.Ile326=
  • LRG_764p2:p.Ile314=
  • NC_000023.10:g.153296337G>A
Links:
dbSNP: rs61751446
NCBI 1000 Genomes Browser:
rs61751446
Molecular consequence:
  • NM_001110792.2:c.978C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316337.2:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369391.2:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369392.2:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369393.2:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369394.2:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386137.1:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386138.1:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386139.1:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.3:c.942C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.4:c.942C>T - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000188304RettBASEno assertion criteria providedBenign
(Mar 29, 2011)
unknowncuration

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

SCV000248008Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Benign
(Jun 22, 2017)
germlineclinical testing

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

SCV000341193EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(May 4, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot provided2not providednot provided2not providedcuration
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Low frequency of MECP2 mutations in mentally retarded males.

Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H.

Eur J Hum Genet. 2002 Aug;10(8):487-90.

PubMed [citation]
PMID:
12111644

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, et al.

Mol Psychiatry. 2011 Aug;16(8):867-80. doi: 10.1038/mp.2010.54. Epub 2010 May 18.

PubMed [citation]
PMID:
20479760
PMCID:
PMC3289139
See all PubMed Citations (3)

Details of each submission

From RettBASE, SCV000188304.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (2)
2not provided1not providednot providedcuration PubMed (2)

Description

"Not Rett synd. - schizophrenia"
"Not Rett synd. - mental retardation"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1blood, lymphoblastoid cell linnot provided1not providednot providednot provided
2unknownnot provided1not knownnot provided1not providednot providednot provided

From Genetic Services Laboratory,University of Chicago, SCV000248008.2

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000341193.4

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

Last Updated: Nov 27, 2021

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