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NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) AND X-linked intellectual disability-psychosis-macroorchidism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 24, 2021
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:
RCV002243797.2

Allele description [Variation Report for NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)]

NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)

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.182C>G (p.Ser61Ter)
Other names:
NM_001110792.2(MECP2):c.182C>G; p.Ser61Ter
HGVS:
  • NC_000023.11:g.154032438G>C
  • NG_007107.3:g.109666C>G
  • NM_001110792.2:c.182C>GMANE SELECT
  • NM_001316337.2:c.-134C>G
  • NM_001369391.2:c.-134C>G
  • NM_001369392.2:c.-134C>G
  • NM_001369393.2:c.-134C>G
  • NM_001369394.2:c.-134C>G
  • NM_001386137.1:c.-415C>G
  • NM_001386138.1:c.-415C>G
  • NM_001386139.1:c.-415C>G
  • NM_004992.4:c.146C>G
  • NP_001104262.1:p.Ser61Ter
  • NP_004983.1:p.Ser49Ter
  • NP_004983.1:p.Ser49Ter
  • LRG_764t1:c.182C>G
  • LRG_764t2:c.146C>G
  • AJ132917.1:c.146C>G
  • LRG_764:g.109666C>G
  • LRG_764p1:p.Ser61Ter
  • LRG_764p2:p.Ser49Ter
  • NC_000023.10:g.153297889G>C
  • NG_007107.2:g.109690C>G
  • NM_004992.3:c.146C>G
Protein change:
S49*
Links:
dbSNP: rs61754432
NCBI 1000 Genomes Browser:
rs61754432
Molecular consequence:
  • NM_001316337.2:c.-134C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369391.2:c.-134C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369392.2:c.-134C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369393.2:c.-134C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369394.2:c.-134C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386137.1:c.-415C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386138.1:c.-415C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001386139.1:c.-415C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001110792.2:c.182C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004992.4:c.146C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002512290Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 24, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512290.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024