NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jan 6, 2020
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:: RCV001090502.25

Allele description [Variation Report for NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)]

NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)

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.710C>G (p.Pro237Arg)

Other names:

NM_001110792.2(MECP2):c.710C>G; p.Pro237Arg

HGVS:

NC_000023.11:g.154031154G>C
NG_007107.3:g.110950C>G
NM_001110792.2:c.710C>GMANE SELECT
NM_001316337.2:c.395C>G
NM_001369391.2:c.395C>G
NM_001369392.2:c.395C>G
NM_001369393.2:c.395C>G
NM_001369394.2:c.395C>G
NM_001386137.1:c.5C>G
NM_001386138.1:c.5C>G
NM_001386139.1:c.5C>G
NM_004992.4:c.674C>G
NP_001104262.1:p.Pro237Arg
NP_001303266.1:p.Pro132Arg
NP_001356320.1:p.Pro132Arg
NP_001356321.1:p.Pro132Arg
NP_001356322.1:p.Pro132Arg
NP_001356323.1:p.Pro132Arg
NP_001373066.1:p.Pro2Arg
NP_001373067.1:p.Pro2Arg
NP_001373068.1:p.Pro2Arg
NP_004983.1:p.Pro225Arg
NP_004983.1:p.Pro225Arg
LRG_764t1:c.710C>G
LRG_764t2:c.674C>G
AJ132917.1:c.674C>G
LRG_764:g.110950C>G
LRG_764p1:p.Pro237Arg
LRG_764p2:p.Pro225Arg
NC_000023.10:g.153296605G>C
NG_007107.2:g.110974C>G
NM_004992.3:c.674C>G
P51608:p.Pro225Arg

Protein change:

P132R

Links:

UniProtKB: P51608#VAR_018198; dbSNP: rs61749715

NCBI 1000 Genomes Browser:

rs61749715

Molecular consequence:

NM_001110792.2:c.710C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001316337.2:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369391.2:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369392.2:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369393.2:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369394.2:c.395C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386137.1:c.5C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386138.1:c.5C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001386139.1:c.5C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004992.4:c.674C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Haloterrigena turkmenica DSM 5511 strain VKM B-1734 16S ribosomal RNA, complete ...
Haloterrigena turkmenica DSM 5511 strain VKM B-1734 16S ribosomal RNA, complete sequence
gi|343200091|ref|NR_040778.1|

Nucleotide
Haloterrigena turkmenica DSM 5511, complete sequence
Haloterrigena turkmenica DSM 5511, complete sequence
gi|284163295|ref|NC_013743.1|

Nucleotide
Haloterrigena turkmenica strain DSM 5511 16S ribosomal RNA, complete sequence
Haloterrigena turkmenica strain DSM 5511 16S ribosomal RNA, complete sequence
gi|444303816|gnl|REF_SSU16S|CP00186 463-514937|ref|NR_074238.1|

Nucleotide
ethylmalonyl-CoA decarboxylase isoform 2 [Homo sapiens]
ethylmalonyl-CoA decarboxylase isoform 2 [Homo sapiens]
gi|50593027|ref|NP_060949.2|

Protein
JP 2018134113-A/91: MODIFIED MICROORGANISMS AND METHODS OF MAKING BUTADIENE USIN...
JP 2018134113-A/91: MODIFIED MICROORGANISMS AND METHODS OF MAKING BUTADIENE USING SAME
gi|1803066314|dbj|MB449693.1||pat|J 8134113|91

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001246088	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Mar 1, 2017)	germline	clinical testing	Citation Link,
SCV001449032	Knight Diagnostic Laboratories, Oregon Health and Sciences University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 14, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001813722	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 6, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001246088

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Pathogenic
(Mar 1, 2017)

germline

clinical testing

Citation Link,

SCV001449032

Knight Diagnostic Laboratories, Oregon Health and Sciences University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 14, 2016)

germline

clinical testing

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

SCV001813722

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 6, 2020)

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	unknown	1	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

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 CeGaT Center for Human Genetics Tuebingen, SCV001246088.26

#	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

From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001449032.1

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

From GeneDx, SCV001813722.1

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

Description

Published functional studies demonstrate a damaging effect (Guy et al., 2018); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33084218, 10854091, 17089071, 10805343, 17387578, 21160487, 26984561, 11245712, 22190343, 26469135, 22139899, 15880509, 18056689, 19133691, 11524741, 29782864, 12180070, 18842453, 21954873, 12655490, 11214906, 12746405, 15675358, 29718204, 17142618, 16690727, 16473305, 12111643, 12075485, 10767337)

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine