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NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 31, 2019
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:
RCV002331090.9

Allele description [Variation Report for NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del)]

NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del)
HGVS:
  • NC_000023.11:g.154097621TCC[4]
  • NG_007107.3:g.44471AGG[4]
  • NM_001110792.2:c.33AGG[4]MANE SELECT
  • NM_001316337.2:c.-575AGG[4]
  • NM_001369391.2:c.-870AGG[4]
  • NM_001369392.2:c.-519AGG[4]
  • NM_001369393.2:c.-395AGG[4]
  • NM_001386137.1:c.-800AGG[4]
  • NM_001386138.1:c.-688AGG[4]
  • NM_001386139.1:c.-564AGG[4]
  • NM_004992.4:c.-128AGG[4]
  • NP_001104262.1:p.Gly16del
  • LRG_764t1:c.33AGG[4]
  • LRG_764t2:c.-128AGG[4]
  • LRG_764:g.44471AGG[4]
  • LRG_764p1:p.Gly16del
  • NC_000023.10:g.153363076_153363078del
  • NC_000023.10:g.153363078TCC[4]
  • NG_007107.2:g.44489AGG[4]
  • NM_001110792.1:c.45_47delAGG
  • NM_004992.3:c.-116_-114delAGG
Protein change:
G16del
Links:
dbSNP: rs587783744
NCBI 1000 Genomes Browser:
rs587783744
Molecular consequence:
  • NM_001316337.2:c.-575AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-870AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-519AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-395AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-800AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-688AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-564AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004992.4:c.-128AGG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.33AGG[4] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002635420Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jul 31, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002635420.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024