NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) AND Rett syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2017
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:: RCV000708591.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs)]

NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs)

HGVS:

NC_000023.11:g.154030554_154031128del
NG_007107.2:g.111001_111575del
NG_007107.3:g.110977_111551del
NM_001110792.2:c.737_1311delMANE SELECT
NM_001316337.2:c.422_996del
NM_001369391.2:c.422_996del
NM_001369392.2:c.422_996del
NM_001369393.2:c.422_996del
NM_001369394.2:c.422_996del
NM_001386137.1:c.32_606del
NM_001386138.1:c.32_606del
NM_001386139.1:c.32_606del
NM_004992.4:c.701_1275del
NP_001104262.1:p.Ala246fs
NP_001303266.1:p.Ala141fs
NP_001356320.1:p.Ala141fs
NP_001356321.1:p.Ala141fs
NP_001356322.1:p.Ala141fs
NP_001356323.1:p.Ala141fs
NP_001373066.1:p.Ala11fs
NP_001373067.1:p.Ala11fs
NP_001373068.1:p.Ala11fs
NP_004983.1:p.Ala234fs
LRG_764t1:c.737_1311del
LRG_764t2:c.701_1275del
LRG_764:g.110977_111551del
LRG_764p1:p.Ala246fs
LRG_764p2:p.Ala234fs
NC_000023.10:g.153296005_153296579del

Protein change:

A11fs

Links:

dbSNP: rs1569548274

NCBI 1000 Genomes Browser:

rs1569548274

Molecular consequence:

NM_001110792.2:c.737_1311del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316337.2:c.422_996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369391.2:c.422_996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369392.2:c.422_996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369393.2:c.422_996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369394.2:c.422_996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386137.1:c.32_606del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386138.1:c.32_606del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386139.1:c.32_606del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.701_1275del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Rett syndrome (RTT)
Synonyms:: Autism, dementia, ataxia, and loss of purposeful hand use; MECP2-Related Disorders; Rett's disorder
Identifiers:: MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000837718	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2017)	de novo	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

SCV000837718

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2017)

de novo

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
Mexican	de novo	yes	1	1	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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000837718.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Mexican	1	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	de novo	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Sep 17, 2022

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