NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) AND Ohdo syndrome, X-linked

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 11, 2016
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:: RCV000043500.24

Allele description

NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)

Gene:

MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)

HGVS:

NC_000023.11:g.71129131T>C
NG_012808.1:g.15576T>C
NM_005120.3:c.3493T>CMANE SELECT
NP_005111.2:p.Ser1165Pro
NP_005111.2:p.Ser1165Pro
NC_000023.10:g.70348981T>C
NM_005120.2:c.3493T>C
Q93074:p.Ser1165Pro

Protein change:

S1165P; SER1165PRO

Links:

UniProtKB: Q93074#VAR_069771; OMIM: 300188.0004; dbSNP: rs387907361

NCBI 1000 Genomes Browser:

rs387907361

Molecular consequence:

NM_005120.3:c.3493T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ohdo syndrome, X-linked (OHDOX)
Synonyms:: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
Identifiers:: MONDO: MONDO:0010477; MedGen: C3698541; Orphanet: 293707; OMIM: 300895

Recent activity

Clear Turn Off Turn On

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
SCV000067333	OMIM	no assertion criteria provided	Pathogenic (Mar 7, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000297770	GeneReviews	no assertion criteria provided	Pathogenic (Aug 11, 2016)	germline	literature only	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000067333

OMIM

no assertion criteria provided

Pathogenic
(Mar 7, 2013)

germline

literature only

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

SCV000297770

GeneReviews

no assertion criteria provided

Pathogenic
(Aug 11, 2016)

germline

literature only

Citation Link

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

Citations

PubMed

Mutations in MED12 cause X-linked Ohdo syndrome.

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP.

Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.

PubMed [citation]

PMID:: 23395478
PMCID:: PMC3591845

Details of each submission

From OMIM, SCV000067333.1

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

Description

By exome sequencing in a family in which 2 males had Ohdo syndrome (OHDOX; 300895), Vulto-van Silfhout et al. (2013) identified a hemizygous c.3493T-C transition in the MED12 gene, resulting in a ser1165-to-pro (S1165P) substitution, that segregated with the phenotype. Ser1165 is a highly conserved residue, and the mutation was predicted to be damaging to protein function.

#	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

From GeneReviews, SCV000297770.1

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

Last Updated: Aug 21, 2021

ClinVar

Relating variation to medicine