NM_001378120.1(MBD5):c.2399G>C (p.Gly800Ala) AND History of neurodevelopmental disorder

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2017
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:: RCV000719782.1

Allele description

NM_001378120.1(MBD5):c.2399G>C (p.Gly800Ala)

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.2399G>C (p.Gly800Ala)

HGVS:

NC_000002.12:g.148470342G>C
NG_017003.2:g.454332G>C
NM_001378120.1:c.2399G>CMANE SELECT
NM_018328.5:c.2399G>C
NP_001365049.1:p.Gly800Ala
NP_060798.2:p.Gly800Ala
NP_060798.2:p.Gly800Ala
NC_000002.11:g.149227911G>C
NM_018328.4:c.2399G>C

Protein change:

G800A

Links:

dbSNP: rs201668347

NCBI 1000 Genomes Browser:

rs201668347

Molecular consequence:

NM_001378120.1:c.2399G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_018328.5:c.2399G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: History of neurodevelopmental disorder
Identifiers:: MedGen: C2711754

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850652	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (May 10, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850652

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(May 10, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000850652.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The p.G800A variant (also known as c.2399G>C), located in coding exon 4 of the MBD5 gene, results from a G to C substitution at nucleotide position 2399. The glycine at codon 800 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Apr 23, 2022

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