NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 2018
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:: RCV000766080.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)]

NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)

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.1469G>A (p.Arg490Gln)

Other names:

p.R478Q:CGG>CAG; NM_001110792.2(MECP2):c.1469G>A; p.Arg490Gln

HGVS:

NC_000023.11:g.154030395C>T
NG_007107.3:g.111709G>A
NM_001110792.2:c.1469G>AMANE SELECT
NM_001316337.2:c.1154G>A
NM_001369391.2:c.1154G>A
NM_001369392.2:c.1154G>A
NM_001369393.2:c.1154G>A
NM_001369394.2:c.1154G>A
NM_001386137.1:c.764G>A
NM_001386138.1:c.764G>A
NM_001386139.1:c.764G>A
NM_004992.4:c.1433G>A
NP_001104262.1:p.Arg490Gln
NP_001303266.1:p.Arg385Gln
NP_001356320.1:p.Arg385Gln
NP_001356321.1:p.Arg385Gln
NP_001356322.1:p.Arg385Gln
NP_001356323.1:p.Arg385Gln
NP_001373066.1:p.Arg255Gln
NP_001373067.1:p.Arg255Gln
NP_001373068.1:p.Arg255Gln
NP_004983.1:p.Arg478Gln
NP_004983.1:p.Arg478Gln
LRG_764t1:c.1469G>A
LRG_764t2:c.1433G>A
LRG_764:g.111709G>A
LRG_764p1:p.Arg490Gln
LRG_764p2:p.Arg478Gln
NC_000023.10:g.153295846C>T
NG_007107.2:g.111733G>A
NM_004992.3:c.1433G>A

Protein change:

R255Q

Links:

dbSNP: rs145790362

NCBI 1000 Genomes Browser:

rs145790362

Molecular consequence:

NM_001110792.2:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.1433G>A - 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

Name:: Syndromic X-linked intellectual disability Lubs type (MRXSL)
Synonyms:: MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; Lubs X-linked mental retardation syndrome; XLMR syndrome, Lubs type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010283; MedGen: C1846058; OMIM: 300260

Name:: X-linked intellectual disability-psychosis-macroorchidism syndrome (MRXS13)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; PPM-X syndrome
Identifiers:: MONDO: MONDO:0010235; MedGen: C0796222; Orphanet: 3077; OMIM: 300055

Name:: Rett syndrome (RTT)
Synonyms:: Autism, dementia, ataxia, and loss of purposeful hand use; Rett's disorder
Identifiers:: MONDO: MONDO:0010726; MedGen: C0035372; Orphanet: 3095; Orphanet: 778; OMIM: 312750

Name:: Autism, susceptibility to, X-linked 3 (AUTSX3)
Synonyms:: Austism susceptibility, X-linked; Autism susceptibility, X-linked 3
Identifiers:: MONDO: MONDO:0010342; MedGen: C1845336; OMIM: 300496

Recent activity

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RecName: Full=Formin-binding protein 1-like; AltName: Full=Transducer of Cdc42-d...
RecName: Full=Formin-binding protein 1-like; AltName: Full=Transducer of Cdc42-dependent actin assembly protein 1; Short=Toca-1
gi|663434119|sp|Q5T0N5.3|FBP1L_HUMA

Protein
Hepatorenal Syndrome
Hepatorenal Syndrome
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease ...<br/>Year introduced: 1991(1987)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897555	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 31, 2018)	unknown	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

SCV000897555

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 31, 2018)

unknown

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	unknown	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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000897555.1

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

Last Updated: Sep 29, 2024

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