NM_001110792.2(MECP2):c.311del (p.Gly104fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2014
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:: RCV000144752.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.311del (p.Gly104fs)]

NM_001110792.2(MECP2):c.311del (p.Gly104fs)

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.311del (p.Gly104fs)

HGVS:

NC_000023.11:g.154032312del
NG_007107.2:g.109819del
NG_007107.3:g.109795del
NM_001110792.2:c.311delMANE SELECT
NM_001316337.2:c.-5del
NM_001369391.2:c.-5del
NM_001369392.2:c.-5del
NM_001369393.2:c.-5del
NM_001369394.2:c.-5del
NM_001386137.1:c.-286del
NM_001386138.1:c.-286del
NM_001386139.1:c.-286del
NM_004992.4:c.275del
NP_001104262.1:p.Gly104fs
NP_004983.1:p.Gly92fs
LRG_764t1:c.311del
LRG_764t2:c.275del
LRG_764:g.109795del
LRG_764p1:p.Gly104fs
LRG_764p2:p.Gly92fs
NC_000023.10:g.153297763del
NM_004992.3:c.275delG
p.G92DfsX33

Protein change:

G104fs

Links:

dbSNP: rs267608446

NCBI 1000 Genomes Browser:

rs267608446

Molecular consequence:

NM_001316337.2:c.-5del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369391.2:c.-5del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369392.2:c.-5del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369393.2:c.-5del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001369394.2:c.-5del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386137.1:c.-286del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386138.1:c.-286del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001386139.1:c.-286del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001110792.2:c.311del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004992.4:c.275del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000190965	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 12, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000190965

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 12, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000190965.2

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

Description

The c.275delG mutation in the MECP2 gene causes a frameshift starting with codon Glycine 92, changes this amino acid to an Aspartic acid residue and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Gly92AspfsX33. This mutation is predicted to cause loss of normal protein function through protein truncation, as the last 395 amino acids of the MECP2 protein are replaced with 32 aberrant amino acids. The variant is found in INFANT-EPI panel(s).

#	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 17, 2022

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