NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Oct 1, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000224116.33

Allele description [Variation Report for NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)]

NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)

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.1366G>A (p.Ala456Thr)

Other names:

p.A444T:GCC>ACC; NM_001110792.2(MECP2):c.1366G>A; p.Ala456Thr

HGVS:

NC_000023.11:g.154030498C>T
NG_007107.3:g.111606G>A
NM_001110792.2:c.1366G>AMANE SELECT
NM_001316337.2:c.1051G>A
NM_001369391.2:c.1051G>A
NM_001369392.2:c.1051G>A
NM_001369393.2:c.1051G>A
NM_001369394.2:c.1051G>A
NM_001386137.1:c.661G>A
NM_001386138.1:c.661G>A
NM_001386139.1:c.661G>A
NM_004992.4:c.1330G>A
NP_001104262.1:p.Ala456Thr
NP_001303266.1:p.Ala351Thr
NP_001356320.1:p.Ala351Thr
NP_001356321.1:p.Ala351Thr
NP_001356322.1:p.Ala351Thr
NP_001356323.1:p.Ala351Thr
NP_001373066.1:p.Ala221Thr
NP_001373067.1:p.Ala221Thr
NP_001373068.1:p.Ala221Thr
NP_004983.1:p.Ala444Thr
NP_004983.1:p.Ala444Thr
LRG_764t1:c.1366G>A
LRG_764t2:c.1330G>A
AJ132917.1:c.1330G>A
LRG_764:g.111606G>A
LRG_764p1:p.Ala456Thr
LRG_764p2:p.Ala444Thr
NC_000023.10:g.153295949C>T
NG_007107.2:g.111630G>A
NM_004992.3:c.1330G>A
P51608:p.Ala444Thr
p.(Ala444Thr)

Protein change:

A221T

Links:

UniProtKB: P51608#VAR_018224; dbSNP: rs61753975

NCBI 1000 Genomes Browser:

rs61753975

Molecular consequence:

NM_001110792.2:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.1051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281659	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Dec 23, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000804264	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia See additional submitters Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	no assertion criteria provided	Benign (Apr 3, 2015)	germline	clinical testing
SCV001150509	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Oct 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281659

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Dec 23, 2015)

germline

clinical testing

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

SCV000804264

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

See additional submitters

no assertion criteria provided

Benign
(Apr 3, 2015)

germline

clinical testing

SCV001150509

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely benign
(Oct 1, 2016)

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281659.1

#	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	not provided	not provided	not provided	not provided		not provided	0.001906	not provided	not provided

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000804264.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001150509.28

#	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: Jan 19, 2025

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