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NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 3, 2015
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:
RCV001712737.9

Allele description [Variation Report for NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)]

NM_001110792.2(MECP2):c.6CGC[5] (p.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[5] (p.Ala8del)
HGVS:
  • NC_000023.11:g.154097645GGC[5]
  • NG_007107.3:g.44444CGC[5]
  • NM_001110792.2:c.6CGC[5]MANE SELECT
  • NM_001316337.2:c.-602CGC[5]
  • NM_001369391.2:c.-897CGC[5]
  • NM_001369392.2:c.-546CGC[5]
  • NM_001369393.2:c.-422CGC[5]
  • NM_001386137.1:c.-827CGC[5]
  • NM_001386138.1:c.-715CGC[5]
  • NM_001386139.1:c.-591CGC[5]
  • NM_004992.4:c.-155CGC[5]
  • NP_001104262.1:p.Ala8del
  • LRG_764t1:c.6CGC[5]
  • LRG_764t2:c.-155CGC[5]
  • LRG_764:g.44444CGC[5]
  • LRG_764p1:p.Ala8del
  • NC_000023.10:g.153363100_153363102del
  • NC_000023.10:g.153363102GGC[5]
  • NG_007107.2:g.44462CGC[5]
  • NM_001110792.1:c.21_23delCGC
  • NM_001110792.2:c.21_23delMANE SELECT
Protein change:
A8del
Links:
dbSNP: rs398123566
NCBI 1000 Genomes Browser:
rs398123566
Molecular consequence:
  • NM_001316337.2:c.-602CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-897CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-546CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-422CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-827CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-715CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-591CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004992.4:c.-155CGC[5] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.6CGC[5] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001940548GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Mar 3, 2015) 		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, SCV001940548.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024