NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs) AND Rett syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001251144.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)]

NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)

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.177_180dup (p.Ser61fs)

HGVS:

NC_000023.11:g.154032442_154032445dup
NG_007107.2:g.109685_109688dup
NM_001110792.2:c.177_180dupMANE SELECT
NM_001316337.2:c.-139_-136dup
NM_001369391.2:c.-139_-136dup
NM_001369392.2:c.-139_-136dup
NM_001369393.2:c.-139_-136dup
NM_001369394.2:c.-139_-136dup
NM_004992.4:c.141_144dup
NP_001104262.1:p.Ser61fs
NP_004983.1:p.Ser49fs
LRG_764t1:c.177_180dup
LRG_764t2:c.141_144dup
LRG_764p1:p.Ser61fs
LRG_764p2:p.Ser49fs
NC_000023.10:g.153297893_153297896dup
NM_001110792.1:c.177_180dup

Protein change:

S49fs

Links:

dbSNP: rs2065988707

NCBI 1000 Genomes Browser:

rs2065988707

Molecular consequence:

NM_001316337.2:c.-139_-136dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369391.2:c.-139_-136dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369392.2:c.-139_-136dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369393.2:c.-139_-136dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369394.2:c.-139_-136dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001110792.2:c.177_180dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.141_144dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001426511	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 32860008

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426511

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	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

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, et al.

Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28.

PubMed [citation]

PMID:: 32860008
PMCID:: PMC7852664

Details of each submission

From Centogene AG - the Rare Disease Company, SCV001426511.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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