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NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 28, 2022
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:
RCV002247744.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)]

NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)

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.337_1247del911 (p.Pro113fs)
Other names:
del(X)(q28q28)
HGVS:
  • NC_000023.11:g.154030617_154032283del
  • NG_007107.3:g.109821_111487del
  • NM_001110792.2:c.337_1247del911MANE SELECT
  • NM_001316337.2:c.22_932del911
  • NM_001369391.2:c.22_932del911
  • NM_001369392.2:c.22_932del911
  • NM_001369393.2:c.22_932del911
  • NM_001369394.2:c.22_932del911
  • NM_001386137.1:c.-260_542del802
  • NM_001386138.1:c.-260_542del802
  • NM_001386139.1:c.-260_542del802
  • NM_004992.4:c.301_1211del911
  • NP_001104262.1:p.Pro113fs
  • NP_001303266.1:p.Pro8fs
  • NP_001356320.1:p.Pro8fs
  • NP_001356321.1:p.Pro8fs
  • NP_001356322.1:p.Pro8fs
  • NP_001356323.1:p.Pro8fs
  • NP_001373066.1:p.Met1fs
  • NP_001373067.1:p.Met1fs
  • NP_001373068.1:p.Met1fs
  • NP_004983.1:p.Pro101fs
  • LRG_764t1:c.337_1247del911
  • LRG_764t2:c.301_1211del911
  • LRG_764:g.109821_111487del
  • LRG_764p1:p.Pro113fs
  • LRG_764p2:p.Pro101fs
  • NC_000023.10:g.153296068_153297734del
Protein change:
M1fs
Molecular consequence:
  • NM_001110792.2:c.337_1247del911 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316337.2:c.22_932del911 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369391.2:c.22_932del911 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369392.2:c.22_932del911 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369393.2:c.22_932del911 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369394.2:c.22_932del911 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386137.1:c.-260_542del802 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386138.1:c.-260_542del802 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386139.1:c.-260_542del802 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.301_1211del911 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386137.1:c.-260_542del802 - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001386138.1:c.-260_542del802 - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001386139.1:c.-260_542del802 - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001110792.2:c.337_1247del911 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001316337.2:c.22_932del911 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369391.2:c.22_932del911 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369392.2:c.22_932del911 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369393.2:c.22_932del911 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369394.2:c.22_932del911 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386137.1:c.-260_542del802 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386138.1:c.-260_542del802 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386139.1:c.-260_542del802 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004992.4:c.301_1211del911 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001110792.2:c.337_1247del911 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001316337.2:c.22_932del911 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369391.2:c.22_932del911 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369392.2:c.22_932del911 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369393.2:c.22_932del911 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369394.2:c.22_932del911 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386137.1:c.-260_542del802 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386138.1:c.-260_542del802 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386139.1:c.-260_542del802 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004992.4:c.301_1211del911 - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Severe neonatal-onset encephalopathy with microcephaly
Synonyms:
Encephalopathy, neonatal severe; Encephalopathy, neonatal severe, due to MECP2 mutations
Identifiers:
MONDO: MONDO:0010397; MedGen: C1968556; Orphanet: 209370; OMIM: 300673
Name:
Syndromic X-linked intellectual disability Lubs type (MRXSL)
Synonyms:
MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; Lubs X-linked mental retardation syndrome; XLMR syndrome, Lubs type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010283; MedGen: C1846058; OMIM: 300260
Name:
X-linked intellectual disability-psychosis-macroorchidism syndrome (MRXS13)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; PPM-X syndrome
Identifiers:
MONDO: MONDO:0010235; MedGen: C0796222; Orphanet: 3077; OMIM: 300055
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
Name:
Autism, susceptibility to, X-linked 3 (AUTSX3)
Synonyms:
Austism susceptibility, X-linked; Autism susceptibility, X-linked 3
Identifiers:
MONDO: MONDO:0010342; MedGen: C1845336; OMIM: 300496

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516004Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 28, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002516004.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023