NM_001110792.2(MECP2):c.251del (p.Pro84fs) AND Rett syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 15, 2016
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:: RCV000504294.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.251del (p.Pro84fs)]

NM_001110792.2(MECP2):c.251del (p.Pro84fs)

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.251del (p.Pro84fs)

HGVS:

NC_000023.11:g.154032372del
NG_007107.3:g.109735del
NM_001110792.2:c.251delMANE SELECT
NM_001316337.2:c.-65del
NM_001369391.2:c.-65del
NM_001369392.2:c.-65del
NM_001369393.2:c.-65del
NM_001369394.2:c.-65del
NM_001386137.1:c.-346del
NM_001386138.1:c.-346del
NM_001386139.1:c.-346del
NM_004992.4:c.215del
NP_001104262.1:p.Pro84fs
NP_004983.1:p.Pro72fs
NP_004983.1:p.Pro72fs
LRG_764t1:c.251del
LRG_764t2:c.215del
LRG_764:g.109735del
LRG_764p1:p.Pro84fs
LRG_764p2:p.Pro72fs
NC_000023.10:g.153297823del
NG_007107.2:g.109759del
NM_004992.3:c.215del

Protein change:

P72fs

Links:

dbSNP: rs61754441

NCBI 1000 Genomes Browser:

rs61754441

Molecular consequence:

NM_001316337.2:c.-65del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369391.2:c.-65del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369392.2:c.-65del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369393.2:c.-65del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369394.2:c.-65del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386137.1:c.-346del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386138.1:c.-346del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386139.1:c.-346del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001110792.2:c.251del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.215del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000595753	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 15, 2016)	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

SCV000595753

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 15, 2016)

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, SCV000595753.1

#	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: Apr 9, 2023

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