NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser) AND Mental retardation, autosomal dominant 35

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 3, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000201513.1

Allele description

NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)

Genes:

MEA1:male-enhanced antigen 1 [Gene - OMIM - HGNC]
PPP2R5D:protein phosphatase 2 regulatory subunit B'delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)

HGVS:

NC_000006.12:g.43006514C>T
NG_050636.1:g.27016C>T
NM_001270476.2:c.-297C>T
NM_006245.4:c.157C>T
NM_180976.3:c.157C>T
NM_180977.3:c.28-420C>T
NP_006236.1:p.Pro53Ser
NP_851307.1:p.Pro53Ser
NC_000006.11:g.42974252C>T
NM_006245.2:c.157C>T
Q14738:p.Pro53Ser

Protein change:

P53S; PRO53SER

Links:

UniProtKB: Q14738#VAR_069414; OMIM: 601646.0003; dbSNP: rs757369209

NCBI 1000 Genomes Browser:

rs757369209

Molecular consequence:

NM_001270476.2:c.-297C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_180977.3:c.28-420C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_006245.4:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_180976.3:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mental retardation, autosomal dominant 35 (MRD35)
Identifiers:: MedGen: C4225354; Orphanet: 457279; OMIM: 616355

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256114	OMIM	no assertion criteria provided	Pathogenic (Aug 3, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256114

OMIM

no assertion criteria provided

Pathogenic
(Aug 3, 2015)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, et al.

J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13.

PubMed [citation]

PMID:: 26168268
PMCID:: PMC4623570

Details of each submission

From OMIM, SCV000256114.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with autosomal dominant mental retardation-35 (MRD35; 616355), Houge et al. (2015) identified a de novo heterozygous c.157C-T transition (c.157C-T, NM_006245.2) in the PPP2R5D gene, resulting in a pro53-to-ser (P53S) substitution.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 18, 2019

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