U.S. flag

An official website of the United States government

NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND X-linked intellectual disability-psychosis-macroorchidism syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 14, 2020
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:
RCV000133115.4

Allele description [Variation Report for NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)]

NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)

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.490C>G (p.Pro164Ala)
Other names:
NM_001110792.2(MECP2):c.490C>G; p.Pro164Ala
HGVS:
  • NC_000023.11:g.154031374G>C
  • NG_007107.3:g.110730C>G
  • NM_001110792.2:c.490C>GMANE SELECT
  • NM_001316337.2:c.175C>G
  • NM_001369391.2:c.175C>G
  • NM_001369392.2:c.175C>G
  • NM_001369393.2:c.175C>G
  • NM_001369394.2:c.175C>G
  • NM_001386137.1:c.-129+22C>G
  • NM_001386138.1:c.-129+22C>G
  • NM_001386139.1:c.-129+22C>G
  • NM_004992.4:c.454C>G
  • NP_001104262.1:p.Pro164Ala
  • NP_001303266.1:p.Pro59Ala
  • NP_001356320.1:p.Pro59Ala
  • NP_001356321.1:p.Pro59Ala
  • NP_001356322.1:p.Pro59Ala
  • NP_001356323.1:p.Pro59Ala
  • NP_004983.1:p.Pro152Ala
  • NP_004983.1:p.Pro152Ala
  • LRG_764t1:c.490C>G
  • LRG_764t2:c.454C>G
  • AJ132917.1:c.454C>G
  • LRG_764:g.110730C>G
  • LRG_764p1:p.Pro164Ala
  • LRG_764p2:p.Pro152Ala
  • NC_000023.10:g.153296825G>C
  • NG_007107.2:g.110754C>G
  • NM_001110792.1:c.490C>G
  • NM_004992.3(MECP2):c.454C>G
  • NM_004992.3:c.454C>G
  • p.Pro152Ala
Protein change:
P152A; PRO152ALA
Links:
OMIM: 300005.0036; dbSNP: rs179363900
NCBI 1000 Genomes Browser:
rs179363900
Molecular consequence:
  • NM_001386137.1:c.-129+22C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386138.1:c.-129+22C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386139.1:c.-129+22C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001110792.2:c.490C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316337.2:c.175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369391.2:c.175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369392.2:c.175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369393.2:c.175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369394.2:c.175C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004992.4:c.454C>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188106RettBASE
no assertion criteria provided
Pathogenic
(Mar 4, 2009) 		paternal, unknowncuration

PubMed (4)
[See all records that cite these PMIDs]

SCV001442525HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 14, 2020) 		maternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1Yescuration
not providedunknownunknown4not providednot provided4not providedcuration
not providedmaternalyes1not providednot provided1not providedresearch
not providedpaternalyes1not providednot provided1Yescuration

Citations

PubMed

A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF.

Hum Genet. 2009 Jan;124(6):615-23. doi: 10.1007/s00439-008-0585-6. Epub 2008 Nov 7.

PubMed [citation]
PMID:
18989701

MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S.

Neurology. 2001 Jun 12;56(11):1486-95.

PubMed [citation]
PMID:
11402105
See all PubMed Citations (5)

Details of each submission

From RettBASE, SCV000188106.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedYescuration PubMed (4)
2not provided1not providedYescuration PubMed (4)
3not provided1not providednot providedcuration PubMed (4)
4not provided1not providednot providedcuration PubMed (4)
5not provided1not providednot providedcuration PubMed (4)
6not provided1not providednot providedcuration PubMed (4)

Description

"Not Rett synd. - Pervasive developmental disorder-not otherwise specified"

PubMed [ID: 18989701]

"Not Rett synd. - Not specified"

PubMed [ID: 18989701]

"Not known"

PubMed [ID: 11402105]

"Not known"

PubMed [ID: 11402105]

"Not known"

PubMed [ID: 15526954]

"Not known"

PubMed [ID: 23262346]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1bloodnot provided1not providednot providednot provided
2unknownyes1bloodnot provided1not providednot providednot provided
3unknownunknown1bloodnot provided1not providednot providednot provided
4unknownunknown1bloodnot provided1not providednot providednot provided
5unknownunknown1Bloodnot provided1not providednot providednot provided
6unknownunknown1Bloodnot provided1not providednot providednot provided

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001442525.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes:PS3; PS4M; PM1; PM2; PM5; PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024