NM_001110792.2(MECP2):c.414-18_414-15del AND Severe neonatal-onset encephalopathy with microcephaly

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 25, 2023
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:: RCV002123982.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.414-18_414-15del]

NM_001110792.2(MECP2):c.414-18_414-15del

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.414-18_414-15del

HGVS:

NC_000023.11:g.154031468_154031471del
NG_007107.3:g.110636_110639del
NM_001110792.2:c.414-18_414-15delMANE SELECT
NM_001316337.2:c.99-18_99-15del
NM_001369391.2:c.99-18_99-15del
NM_001369392.2:c.99-18_99-15del
NM_001369393.2:c.99-18_99-15del
NM_001369394.2:c.99-18_99-15del
NM_001386137.1:c.-183-18_-183-15del
NM_001386138.1:c.-183-18_-183-15del
NM_001386139.1:c.-183-18_-183-15del
NM_004992.4:c.378-18_378-15del
LRG_764t1:c.414-18_414-15del
LRG_764t2:c.378-18_378-15del
LRG_764:g.110636_110639del
NC_000023.10:g.153296916_153296919del
NC_000023.10:g.153296919_153296922del
NG_007107.2:g.110660_110663del

Links:

dbSNP: rs782156136

NCBI 1000 Genomes Browser:

rs782156136

Molecular consequence:

NM_001110792.2:c.414-18_414-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001316337.2:c.99-18_99-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369391.2:c.99-18_99-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369392.2:c.99-18_99-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369393.2:c.99-18_99-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369394.2:c.99-18_99-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386137.1:c.-183-18_-183-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386138.1:c.-183-18_-183-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386139.1:c.-183-18_-183-15del - intron variant - [Sequence Ontology: SO:0001627]
NM_004992.4:c.378-18_378-15del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Severe neonatal-onset encephalopathy with microcephaly
Synonyms:: Encephalopathy, neonatal severe; Encephalopathy, neonatal severe, due to MECP2 mutations
Identifiers:: MONDO: MONDO:0010397; MedGen: C1968556; Orphanet: 209370; OMIM: 300673

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002442036	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Dec 25, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002442036

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Dec 25, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002442036.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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