NM_001110792.2(MECP2):c.414-17del AND not specified
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Jul 20, 2015
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000168682.9
Allele description [Variation Report for NM_001110792.2(MECP2):c.414-17del]
NM_001110792.2(MECP2):c.414-17del
- 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.414-17del
- HGVS:
- NC_000023.11:g.154031469del
- NG_007107.3:g.110637del
- NM_001110792.2:c.414-17delMANE SELECT
- NM_001316337.2:c.99-17del
- NM_001369391.2:c.99-17del
- NM_001369392.2:c.99-17del
- NM_001369393.2:c.99-17del
- NM_001369394.2:c.99-17del
- NM_001386137.1:c.-183-17del
- NM_001386138.1:c.-183-17del
- NM_001386139.1:c.-183-17del
- NM_004992.4:c.378-17del
- LRG_764t1:c.414-17del
- LRG_764t2:c.378-17del
- AJ132917.1:c.378-17delT
- LRG_764:g.110637del
- NC_000023.10:g.153296918del
- NC_000023.10:g.153296918delA
- NC_000023.10:g.153296920del
- NG_007107.2:g.110661del
- NG_007107.2:g.110661delT
- NM_004992.3:c.378-17del
- NM_004992.3:c.378-17delT
This HGVS expression did not pass validation- Links:
- dbSNP: rs61753982
- NCBI 1000 Genomes Browser:
- rs61753982
- Molecular consequence:
- NM_001110792.2:c.414-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001316337.2:c.99-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001369391.2:c.99-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001369392.2:c.99-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001369393.2:c.99-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001369394.2:c.99-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386137.1:c.-183-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386138.1:c.-183-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386139.1:c.-183-17del - intron variant - [Sequence Ontology: SO:0001627]
- NM_004992.4:c.378-17del - intron variant - [Sequence Ontology: SO:0001627]
- Observations:
- 3
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000222412 | RettBASE | no assertion criteria provided | Benign (Dec 5, 2013) | maternal, paternal, germline, unknown | curation | |
| SCV000330972 | Eurofins Ntd Llc (ga) | criteria provided, single submitter (EGL Classification Definitions 2015) | Benign (Jul 20, 2015) | germline | clinical testing | |
| SCV001970903 | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
| no assertion criteria provided | Benign | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | unknown | not provided | 80 | not provided | not provided | 80 | No | curation |
| not provided | germline | unknown | 3 | not provided | not provided | not provided | not provided | clinical testing |
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
| not provided | maternal | not provided | 1 | not provided | not provided | 1 | No | curation |
| not provided | germline | not provided | 3 | not provided | not provided | 3 | Yes | curation |
| not provided | paternal | not provided | 3 | not provided | not provided | 3 | No | curation |
Citations
Details of each submission
From RettBASE, SCV000222412.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 2 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 3 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 4 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 5 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 6 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 7 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 8 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 9 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 10 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 11 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 12 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 13 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 14 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 15 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 16 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 17 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 18 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 19 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 20 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 21 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 22 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 23 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 24 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 25 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 26 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 27 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 28 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 29 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 30 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 31 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 32 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 33 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 34 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 35 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 36 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 37 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 38 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 39 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 40 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 41 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 42 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 43 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 44 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 45 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 46 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 47 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 48 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 49 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 50 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 51 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 52 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 53 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 54 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 55 | not provided | 1 | not provided | Yes | curation | PubMed (15) |
| 56 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 57 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 58 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 59 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 60 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 61 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 62 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 63 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 64 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 65 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 66 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 67 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 68 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 69 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 70 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 71 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 72 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 73 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 74 | not provided | 1 | not provided | Yes | curation | PubMed (15) |
| 75 | not provided | 1 | not provided | Yes | curation | PubMed (15) |
| 76 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 77 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 78 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 79 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 80 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 81 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 82 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 83 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 84 | not provided | 1 | not provided | not provided | curation | PubMed (15) |
| 85 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 86 | not provided | 1 | not provided | No | curation | PubMed (15) |
| 87 | not provided | 1 | not provided | No | curation | PubMed (15) |
Description
Not Rett synd. - normal control
Not Rett synd. - unaffected family member
Rett syndrome - Not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - not certain
Rett syndrome - Not certain
Rett syndrome - Not certain
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 2 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 3 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 4 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 5 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 6 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 7 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 8 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 9 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 10 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 11 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 12 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 13 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 14 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 15 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 16 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 17 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 18 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 19 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 20 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 21 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 22 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 23 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 24 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 25 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 26 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 27 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 28 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 29 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 30 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 31 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 32 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 33 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 34 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 35 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 36 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 37 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 38 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 39 | paternal | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 40 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 41 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 42 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 43 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 44 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 45 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 46 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 47 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 48 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 49 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 50 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 51 | unknown | not provided | 1 | Not Known | not provided | 1 | not provided | not provided | not provided | |
| 52 | unknown | not provided | 1 | Not Known | not provided | 1 | not provided | not provided | not provided | |
| 53 | unknown | not provided | 1 | not provided | not provided | 1 | not provided | not provided | not provided | |
| 54 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 55 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 56 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 57 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 58 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 59 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 60 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 61 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 62 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 63 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 64 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 65 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 66 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 67 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 68 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 69 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 70 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 71 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 72 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 73 | unknown | not provided | 1 | not stated | not provided | 1 | not provided | not provided | not provided | |
| 74 | germline | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 75 | germline | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 76 | paternal | not provided | 1 | Not known | not provided | 1 | not provided | not provided | not provided | |
| 77 | maternal | not provided | 1 | Not known | not provided | 1 | not provided | not provided | not provided | |
| 78 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 79 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 80 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 81 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 82 | unknown | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 83 | paternal | not provided | 1 | blood | not provided | 1 | not provided | not provided | not provided | |
| 84 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 85 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 86 | germline | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
| 87 | unknown | not provided | 1 | Blood | not provided | 1 | not provided | not provided | not provided | |
From Eurofins Ntd Llc (ga), SCV000330972.4
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 3 | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | 3 | not provided | not provided | not provided | |
From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001970903.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Sep 29, 2024
PubMed [ID: 10991689]