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NM_001110792.2(MECP2):c.814_829del (p.Asp272fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 16, 2021
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:
RCV002481159.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.814_829del (p.Asp272fs)]

NM_001110792.2(MECP2):c.814_829del (p.Asp272fs)

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.814_829del (p.Asp272fs)
HGVS:
  • NC_000023.11:g.154031036_154031051del
  • NG_007107.3:g.111054_111069del
  • NM_001110792.2:c.814_829delMANE SELECT
  • NM_001316337.2:c.499_514del
  • NM_001369391.2:c.499_514del
  • NM_001369392.2:c.499_514del
  • NM_001369393.2:c.499_514del
  • NM_001369394.2:c.499_514del
  • NM_001386137.1:c.109_124del
  • NM_001386138.1:c.109_124del
  • NM_001386139.1:c.109_124del
  • NM_004992.4:c.778_793del
  • NP_001104262.1:p.Asp272fs
  • NP_001303266.1:p.Asp167fs
  • NP_001356320.1:p.Asp167fs
  • NP_001356321.1:p.Asp167fs
  • NP_001356322.1:p.Asp167fs
  • NP_001356323.1:p.Asp167fs
  • NP_001373066.1:p.Asp37fs
  • NP_001373067.1:p.Asp37fs
  • NP_001373068.1:p.Asp37fs
  • NP_004983.1:p.Asp260fs
  • LRG_764t1:c.814_829del
  • LRG_764t2:c.778_793del
  • LRG_764:g.111054_111069del
  • LRG_764p1:p.Asp272fs
  • LRG_764p2:p.Asp260fs
  • NC_000023.10:g.153296487_153296502del
  • NM_004992.3:c.778_793del
Protein change:
D167fs
Molecular consequence:
  • NM_001110792.2:c.814_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316337.2:c.499_514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369391.2:c.499_514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369392.2:c.499_514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369393.2:c.499_514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369394.2:c.499_514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386137.1:c.109_124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386138.1:c.109_124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386139.1:c.109_124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.778_793del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002774806Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely pathogenic
(Aug 16, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This frameshift variant alters the translational reading frame of the MECP2 mRNA and is predicted to cause the premature termination of MECP2 protein synthesis. To the best of our knowledge, the variant has not been reported in online databases or the published literature. Based on the available information, the variant is predicted to be likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 7, 2023