NM_001378120.1(MBD5):c.74_83del (p.Trp25fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2019
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:: RCV002384886.2

Allele description [Variation Report for NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)]

NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2q23.1

Genomic location:

Preferred name:

NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)

HGVS:

NC_000002.12:g.148458832_148458841del
NG_017003.3:g.442907_442916del
NM_001378120.1:c.74_83delMANE SELECT
NM_018328.5:c.74_83del
NP_001365049.1:p.Trp25fs
NP_060798.2:p.Trp25fs
NC_000002.11:g.149216401_149216410del
NG_017003.2:g.442822_442831del
NM_018328.4:c.74_83del10

Protein change:

W25fs

Molecular consequence:

NM_001378120.1:c.74_83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018328.5:c.74_83del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002671588	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002671588

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 1, 2019)

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

Details of each submission

From Ambry Genetics, SCV002671588.2

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

Description

The c.74_83del10 pathogenic mutation, located in coding exon 1 of the MBD5 gene, results from a deletion of 10 nucleotides at nucleotide positions 74 to 83, causing a translational frameshift with a predicted alternate stop codon (p.W25Lfs*55). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

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