NM_001378120.1(MBD5):c.80G>A (p.Arg27His) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 23, 2023
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:: RCV001779114.4

Allele description [Variation Report for NM_001378120.1(MBD5):c.80G>A (p.Arg27His)]

NM_001378120.1(MBD5):c.80G>A (p.Arg27His)

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.80G>A (p.Arg27His)

HGVS:

NC_000002.12:g.148458838G>A
NG_017003.2:g.442828G>A
NM_001378120.1:c.80G>AMANE SELECT
NM_018328.5:c.80G>A
NP_001365049.1:p.Arg27His
NP_060798.2:p.Arg27His
NC_000002.11:g.149216407G>A
NG_017003.1:g.442828G>A
NM_018328.4:c.80G>A

Protein change:

R27H

Links:

dbSNP: rs1706965994

NCBI 1000 Genomes Browser:

rs1706965994

Molecular consequence:

NM_001378120.1:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018328.5:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002015616	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jul 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002015616

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jul 23, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002015616.4

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

Description

Identified in a patient with epilepsy and neurodevelopmental disorders in published literature (Lindy et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29655203)

#	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: Sep 29, 2024

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