NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Sep 1, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV000723954.31

Allele description [Variation Report for NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)]

NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)

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.737C>G (p.Ala246Gly)

Other names:

p.A234G:GCT>GGT; NM_001110792.2(MECP2):c.737C>G; p.Ala246Gly

HGVS:

NC_000023.11:g.154031127G>C
NG_007107.3:g.110977C>G
NM_001110792.1:c.737C>G
NM_001110792.2:c.737C>GMANE SELECT
NM_001316337.2:c.422C>G
NM_001369391.2:c.422C>G
NM_001369392.2:c.422C>G
NM_001369393.2:c.422C>G
NM_001369394.2:c.422C>G
NM_001386137.1:c.32C>G
NM_001386138.1:c.32C>G
NM_001386139.1:c.32C>G
NM_004992.4:c.701C>G
NP_001104262.1:p.Ala246Gly
NP_001303266.1:p.Ala141Gly
NP_001356320.1:p.Ala141Gly
NP_001356321.1:p.Ala141Gly
NP_001356322.1:p.Ala141Gly
NP_001356323.1:p.Ala141Gly
NP_001373066.1:p.Ala11Gly
NP_001373067.1:p.Ala11Gly
NP_001373068.1:p.Ala11Gly
NP_004983.1:p.Ala234Gly
NP_004983.1:p.Ala234Gly
LRG_764t1:c.737C>G
LRG_764t2:c.701C>G
LRG_764:g.110977C>G
LRG_764p1:p.Ala246Gly
LRG_764p2:p.Ala234Gly
NC_000023.10:g.153296578G>C
NG_007107.2:g.111001C>G
NM_004992.3:c.701C>G

Protein change:

A11G

Links:

dbSNP: rs138211345

NCBI 1000 Genomes Browser:

rs138211345

Molecular consequence:

NM_001110792.2:c.737C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.422C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.32C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.32C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.32C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.701C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000191045	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 21, 2020)	germline	clinical testing	Citation Link,
SCV000230248	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (May 27, 2014)	germline	clinical testing	Citation Link,
SCV001962673	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Sep 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000191045

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Dec 21, 2020)

germline

clinical testing

Citation Link,

SCV000230248

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(May 27, 2014)

germline

clinical testing

Citation Link,

SCV001962673

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Sep 1, 2021)

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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000191045.11

#	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

From Eurofins Ntd Llc (ga), SCV000230248.5

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

From CeGaT Center for Human Genetics Tuebingen, SCV001962673.20

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

Last Updated: Nov 10, 2024

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