U.S. flag

An official website of the United States government

NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 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:
RCV001420272.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)]

NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)

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.1200_1243del (p.Pro400_Pro401insTer)
Other names:
NM_001110792.2(MECP2):c.1200_1243del; p.Pro400_Pro401insTer
HGVS:
  • NC_000023.11:g.154030627_154030670del
  • NG_007107.3:g.111440_111483del
  • NM_001110792.1(MECP2):c.1200_1243del44
  • NM_001110792.2:c.1200_1243delMANE SELECT
  • NM_001316337.2:c.885_928del
  • NM_001369391.2:c.885_928del
  • NM_001369392.2:c.885_928del
  • NM_001369393.2:c.885_928del
  • NM_001369394.2:c.885_928del
  • NM_001386137.1:c.495_538del
  • NM_001386138.1:c.495_538del
  • NM_001386139.1:c.495_538del
  • NM_004992.4:c.1164_1207del
  • NP_001104262.1:p.Pro400_Pro401insTer
  • NP_001303266.1:p.Pro295_Pro296insTer
  • NP_001356320.1:p.Pro295_Pro296insTer
  • NP_001356321.1:p.Pro295_Pro296insTer
  • NP_001356322.1:p.Pro295_Pro296insTer
  • NP_001356323.1:p.Pro295_Pro296insTer
  • NP_001373066.1:p.Pro165_Pro166insTer
  • NP_001373067.1:p.Pro165_Pro166insTer
  • NP_001373068.1:p.Pro165_Pro166insTer
  • NP_004983.1:p.Pro388_Pro389insTer
  • LRG_764t1:c.1200_1243del
  • LRG_764t2:c.1164_1207del
  • AJ132917.1:c.1164_1207del44
  • LRG_764:g.111440_111483del
  • LRG_764p1:p.Pro400_Pro401insTer
  • LRG_764p2:p.Pro388_Pro389insTer
  • NC_000023.10:g.153296072_153296115delGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT
  • NC_000023.10:g.153296078_153296121del
  • NC_000023.10:g.153296078_153296121delTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC
  • NC_000023.10:g.153296078_153296121delTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC
  • NC_000023.11:g.154030621_154030664del44
  • NG_007107.2:g.111464_111507del
  • NM_001110792.1(MECP2):c.1200_1243del44
  • NM_001110792.1:c.1200_1243del
  • NM_001110792.1:c.1200_1243delACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC
  • NM_001316337.1:c.885_928del
  • NM_004992.3:c.1164_1207delACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC
  • p.P389X
  • p.Pro389*
  • p.Pro389X
  • p.Pro401Terfs
Links:
LOVD 3: MECP2_000185; OMIM: 300005.0014; dbSNP: rs61752992
NCBI 1000 Genomes Browser:
rs61752992
Molecular consequence:
  • NM_001110792.2:c.1200_1243del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316337.2:c.885_928del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369391.2:c.885_928del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369392.2:c.885_928del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369393.2:c.885_928del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369394.2:c.885_928del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386137.1:c.495_538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386138.1:c.495_538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386139.1:c.495_538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004992.4:c.1164_1207del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622692Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)		Pathogenic
(Apr 26, 2021) 		de novoclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622692.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PVS1_strong;PP5_strong;PM2_supporting;PM6_moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024