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NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 27, 2017
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:
RCV000144800.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)]

NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)

Genes:
LOC130068854:ATAC-STARR-seq lymphoblastoid silent region 21085 [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.6CGC[4] (p.Ala7_Ala8del)
Other names:
NM_001110792.2(MECP2):c.6CGC[4]; p.Ala7_Ala8del
HGVS:
  • NC_000023.11:g.154097645GGC[4]
  • NG_007107.2:g.44462CGC[4]
  • NM_001110792.2:c.6CGC[4]MANE SELECT
  • NM_001316337.2:c.-602CGC[4]
  • NM_001369391.2:c.-897CGC[4]
  • NM_001369392.2:c.-546CGC[4]
  • NM_001369393.2:c.-422CGC[4]
  • NM_001386137.1:c.-827CGC[4]
  • NM_001386138.1:c.-715CGC[4]
  • NM_001386139.1:c.-591CGC[4]
  • NM_004992.4:c.-155CGC[4]
  • NP_001104262.1:p.Ala7_Ala8del
  • LRG_764t1:c.6CGC[4]
  • LRG_764t2:c.-155CGC[4]
  • LRG_764p1:p.Ala7_Ala8del
  • NC_000023.10:g.153363100_153363105del
  • NC_000023.10:g.153363102GGC[4]
  • NC_000023.11:g.154097657_154097662del
  • NM_001110792.1:c.18_23delCGCCGC
  • NM_004992.3:c.-143_-138del
  • NM_004992.3:c.-143_-138delCGCCGC
  • p.A7_A8del
Links:
dbSNP: rs398123566
NCBI 1000 Genomes Browser:
rs398123566
Molecular consequence:
  • NM_001316337.2:c.-602CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-897CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-546CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-422CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-827CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-715CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-591CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004992.4:c.-155CGC[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.6CGC[4] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191025GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 27, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000191025.3

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Feb 28, 2024