NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) AND Rett syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 14, 2015
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:: RCV000445568.3

Allele description [Variation Report for NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs)]

NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs)

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.1194_*261del (p.Pro399fs)

HGVS:

NC_000023.11:g.154030108_154030672del
NG_007107.3:g.111434_111998del
NM_001110792.2:c.1194_*261delMANE SELECT
NM_001316337.2:c.879_*261del
NM_001369391.2:c.879_*261del
NM_001369392.2:c.879_*261del
NM_001369393.2:c.879_*261del
NM_001369394.2:c.879_*261del
NM_001386137.1:c.489_*261del
NM_001386138.1:c.489_*261del
NM_001386139.1:c.489_*261del
NM_004992.4:c.1158_*261del
NP_001104262.1:p.Pro399fs
NP_001303266.1:p.Pro294fs
NP_001356320.1:p.Pro294fs
NP_001356321.1:p.Pro294fs
NP_001356322.1:p.Pro294fs
NP_001356323.1:p.Pro294fs
NP_001373066.1:p.Pro164fs
NP_001373067.1:p.Pro164fs
NP_001373068.1:p.Pro164fs
NP_004983.1:p.Pro387fs
LRG_764t1:c.1194_*261del
LRG_764t2:c.1158_*261del
LRG_764:g.111434_111998del
LRG_764p1:p.Pro399fs
LRG_764p2:p.Pro387fs
NC_000023.10:g.153295559_153296123del
NG_007107.2:g.111458_112022del

Protein change:

P164fs

Links:

dbSNP: rs1557134621

NCBI 1000 Genomes Browser:

rs1557134621

Molecular consequence:

NM_001110792.2:c.1194_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316337.2:c.879_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369391.2:c.879_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369392.2:c.879_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369393.2:c.879_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369394.2:c.879_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386137.1:c.489_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386138.1:c.489_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386139.1:c.489_*261del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.1158_*261del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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

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PGAM1 [Crocodylus porosus]
Gene ID:109324201

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Gene ID:109308434

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537185	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 14, 2015)	unknown	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

SCV000537185

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 14, 2015)

unknown

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	unknown	yes	1	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 Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV000537185.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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