NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) AND Rett syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 25, 2014
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:: RCV000195260.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.701_707dup (p.Met236fs)]

NM_001110792.2(MECP2):c.701_707dup (p.Met236fs)

Gene:

MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110792.2(MECP2):c.701_707dup (p.Met236fs)

HGVS:

NC_000023.11:g.154031157_154031163dup
NG_007107.3:g.110941_110947dup
NM_001110792.2:c.701_707dupMANE SELECT
NM_001316337.2:c.386_392dup
NM_001369391.2:c.386_392dup
NM_001369392.2:c.386_392dup
NM_001369393.2:c.386_392dup
NM_001369394.2:c.386_392dup
NM_001386137.1:c.-5_2dup
NM_001386138.1:c.-5_2dup
NM_001386139.1:c.-5_2dup
NM_004992.4:c.665_671dup
NP_001104262.1:p.Met236fs
NP_001303266.1:p.Met131fs
NP_001356320.1:p.Met131fs
NP_001356321.1:p.Met131fs
NP_001356322.1:p.Met131fs
NP_001356323.1:p.Met131fs
NP_001373066.1:p.Met1fs
NP_001373067.1:p.Met1fs
NP_001373068.1:p.Met1fs
NP_004983.1:p.Met224fs
NP_004983.1:p.Met224fs
LRG_764t1:c.701_707dup
LRG_764t2:c.665_671dup
LRG_764:g.110941_110947dup
LRG_764p1:p.Met236fs
LRG_764p2:p.Met224fs
NC_000023.10:g.153296608_153296614dup
NG_007107.2:g.110965_110971dup
NM_004992.3:c.665_671dup

Protein change:

M131fs

Links:

dbSNP: rs797045695

NCBI 1000 Genomes Browser:

rs797045695

Molecular consequence:

NM_001110792.2:c.701_707dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316337.2:c.386_392dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369391.2:c.386_392dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369392.2:c.386_392dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369393.2:c.386_392dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369394.2:c.386_392dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386137.1:c.-5_2dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386138.1:c.-5_2dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386139.1:c.-5_2dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.665_671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386137.1:c.-5_2dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001386138.1:c.-5_2dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001386139.1:c.-5_2dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]

Condition(s)

Name:: Rett syndrome (RTT)
Synonyms:: Autism, dementia, ataxia, and loss of purposeful hand use; Rett's disorder
Identifiers:: MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

Recent activity

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Homo sapiens laminin subunit alpha 2 (LAMA2), transcript variant 1, mRNA
Homo sapiens laminin subunit alpha 2 (LAMA2), transcript variant 1, mRNA
gi|1788519519|ref|NM_000426.4|

Nucleotide
Mus musculus chromosome 7, clone RP23-239H14, complete sequence
Mus musculus chromosome 7, clone RP23-239H14, complete sequence
gi|83583025|gnl|WIBR|L30832|gb|AC15 9|

Nucleotide
Human DNA sequence from clone CH507-236L23 on chromosome 21, complete sequence
Human DNA sequence from clone CH507-236L23 on chromosome 21, complete sequence
gi|220938579|emb|CU634019.4|

Nucleotide
Chain C, DYNEIN LIGHT CHAIN 2, CYTOPLASMIC
Chain C, DYNEIN LIGHT CHAIN 2, CYTOPLASMIC
gi|332138080|pdb|2XQQ|C

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000247983	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 25, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000247983

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 25, 2014)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000247983.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 3, 2023

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