NM_004415.4(DSP):c.3684del (p.Glu1229fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 2, 2022
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:: RCV002346708.2

Allele description [Variation Report for NM_004415.4(DSP):c.3684del (p.Glu1229fs)]

NM_004415.4(DSP):c.3684del (p.Glu1229fs)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.3684del (p.Glu1229fs)

HGVS:

NC_000006.12:g.7579874del
NG_008803.1:g.43238del
NM_001008844.3:c.3582+102del
NM_001319034.2:c.3684del
NM_004415.4:c.3684delMANE SELECT
NP_001305963.1:p.Glu1229fs
NP_004406.2:p.Glu1229Argfs
NP_004406.2:p.Glu1229fs
LRG_423t1:c.3684del
LRG_423:g.43238del
LRG_423p1:p.Glu1229Argfs
NC_000006.11:g.7580107del
NM_004415.2:c.3684delA

Protein change:

E1229fs

Molecular consequence:

NM_001319034.2:c.3684del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004415.4:c.3684del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001008844.3:c.3582+102del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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PREDICTED: Homo sapiens aquaporin 12B (AQP12B), transcript variant X7, misc_RNA
PREDICTED: Homo sapiens aquaporin 12B (AQP12B), transcript variant X7, misc_RNA
gi|2217330357|ref|XR_922992.3|

Nucleotide
acid trehalase precursor [Aspergillus nidulans]
acid trehalase precursor [Aspergillus nidulans]
gi|1790920|gb|AAB57642.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002619241	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 2, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002619241

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 2, 2022)

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, SCV002619241.2

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

Description

The c.3684delA pathogenic mutation, located in coding exon 23 of the DSP gene, results from a deletion of one nucleotide at nucleotide position 3684, causing a translational frameshift with a predicted alternate stop codon (p.E1229Rfs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, 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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