NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp) AND Severe neonatal-onset encephalopathy with microcephaly

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 3, 2024
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:: RCV002195782.6

Allele description [Variation Report for NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp)]

NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp)

Gene:

MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp)

HGVS:

NC_000023.11:g.154030412C>G
NG_007107.3:g.111692G>C
NM_001110792.2:c.1452G>CMANE SELECT
NM_001316337.2:c.1137G>C
NM_001369391.2:c.1137G>C
NM_001369392.2:c.1137G>C
NM_001369393.2:c.1137G>C
NM_001369394.2:c.1137G>C
NM_001386137.1:c.747G>C
NM_001386138.1:c.747G>C
NM_001386139.1:c.747G>C
NM_004992.4:c.1416G>C
NP_001104262.1:p.Glu484Asp
NP_001303266.1:p.Glu379Asp
NP_001356320.1:p.Glu379Asp
NP_001356321.1:p.Glu379Asp
NP_001356322.1:p.Glu379Asp
NP_001356323.1:p.Glu379Asp
NP_001373066.1:p.Glu249Asp
NP_001373067.1:p.Glu249Asp
NP_001373068.1:p.Glu249Asp
NP_004983.1:p.Glu472Asp
LRG_764t1:c.1452G>C
LRG_764t2:c.1416G>C
LRG_764:g.111692G>C
LRG_764p1:p.Glu484Asp
LRG_764p2:p.Glu472Asp
NC_000023.10:g.153295863C>G
NG_007107.2:g.111716G>C

Protein change:

E249D

Links:

dbSNP: rs2148658484

NCBI 1000 Genomes Browser:

rs2148658484

Molecular consequence:

NM_001110792.2:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.1137G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.1137G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.1137G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.1137G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.1137G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.747G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.747G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.747G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.1416G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002486782	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 3, 2024)	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

SCV002486782

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 3, 2024)

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, SCV002486782.3

#	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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