NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile) AND Intellectual disability, autosomal dominant 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 16, 2018
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:: RCV000664044.1

Allele description [Variation Report for NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile)]

NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile)

Gene:

MBD5:methyl-CpG binding domain protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.1

Genomic location:

Preferred name:

NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile)

Other names:

NM_018328.4:c.431C>T(p.Thr144Ile)

HGVS:

NC_000002.12:g.148468374C>T
NG_017003.2:g.452364C>T
NM_001378120.1:c.431C>TMANE SELECT
NM_018328.5:c.431C>T
NP_001365049.1:p.Thr144Ile
NP_060798.2:p.Thr144Ile
NC_000002.11:g.149225943C>T

Protein change:

T144I

Links:

dbSNP: rs1553518402

NCBI 1000 Genomes Browser:

rs1553518402

Molecular consequence:

NM_001378120.1:c.431C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018328.5:c.431C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual disability, autosomal dominant 1 (MRD1)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1
Identifiers:: MONDO: MONDO:0007974; MedGen: C1969562; Orphanet: 228402; OMIM: 156200

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
SCV000787456	SIB Swiss Institute of Bioinformatics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 16, 2018)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 17847001, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000787456

SIB Swiss Institute of Bioinformatics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 16, 2018)

germline

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM.

Am J Hum Genet. 2007 Oct;81(4):768-79. Epub 2007 Aug 28.

PubMed [citation]

PMID:: 17847001
PMCID:: PMC2227926

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 SIB Swiss Institute of Bioinformatics, SCV000787456.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

This variant is interpreted as a Uncertain Significance, for Mental retardation, autosomal dominant 1, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.

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

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine