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NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) AND X-linked intellectual disability-psychosis-macroorchidism syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 2023
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:
RCV003883726.1

Allele description [Variation Report for NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)]

NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)

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.724C>A (p.Pro242Thr)
HGVS:
  • NC_000023.11:g.154031140G>T
  • NG_007107.3:g.110964C>A
  • NM_001110792.2:c.724C>AMANE SELECT
  • NM_001316337.2:c.409C>A
  • NM_001369391.2:c.409C>A
  • NM_001369392.2:c.409C>A
  • NM_001369393.2:c.409C>A
  • NM_001369394.2:c.409C>A
  • NM_001386137.1:c.19C>A
  • NM_001386138.1:c.19C>A
  • NM_001386139.1:c.19C>A
  • NM_004992.3:c.688C>A
  • NM_004992.4:c.688C>A
  • NP_001104262.1:p.Pro242Thr
  • NP_001303266.1:p.Pro137Thr
  • NP_001356320.1:p.Pro137Thr
  • NP_001356321.1:p.Pro137Thr
  • NP_001356322.1:p.Pro137Thr
  • NP_001356323.1:p.Pro137Thr
  • NP_001373066.1:p.Pro7Thr
  • NP_001373067.1:p.Pro7Thr
  • NP_001373068.1:p.Pro7Thr
  • NP_004983.1:p.Pro230Thr
  • LRG_764t1:c.724C>A
  • LRG_764t2:c.688C>A
  • LRG_764:g.110964C>A
  • LRG_764p1:p.Pro242Thr
  • LRG_764p2:p.Pro230Thr
  • NC_000023.10:g.153296591G>T
  • NG_007107.2:g.110988C>A
  • NM_001110792.1:c.724C>A
Protein change:
P137T
Links:
dbSNP: rs1209806388
NCBI 1000 Genomes Browser:
rs1209806388
Molecular consequence:
  • NM_001110792.2:c.724C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.409C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386137.1:c.19C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386138.1:c.19C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386139.1:c.19C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.688C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004170993DECIPHERD-UDD, Universidad del Desarrollo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 1, 2023) 		maternalresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

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

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, et al.

Eur J Hum Genet. 2024 Jan 4. doi: 10.1038/s41431-023-01523-5. [Epub ahead of print]

PubMed [citation]
PMID:
38177409

Details of each submission

From DECIPHERD-UDD, Universidad del Desarrollo, SCV004170993.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024