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NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 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:
RCV004036758.1

Allele description [Variation Report for NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs)]

NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs)
HGVS:
  • NC_000006.12:g.7585553_7585554insTGCT
  • NG_008803.1:g.48917_48918insTGCT
  • NM_001008844.3:c.6494_6495insTGCT
  • NM_001319034.2:c.6962_6963insTGCT
  • NM_004415.2:c.8291_8292insTGCT
  • NM_004415.4:c.8291_8292insTGCTMANE SELECT
  • NP_001008844.1:p.Gln2166fs
  • NP_001305963.1:p.Gln2322fs
  • NP_004406.2:p.Gln2765fs
  • LRG_423t1:c.8291_8292insTGCT
  • LRG_423:g.48917_48918insTGCT
  • NC_000006.11:g.7585783_7585784insGCTT
  • NC_000006.11:g.7585786_7585787insTGCT
Protein change:
Q2166fs
Links:
dbSNP: rs756925801
NCBI 1000 Genomes Browser:
rs756925801
Molecular consequence:
  • NM_001008844.3:c.6494_6495insTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319034.2:c.6962_6963insTGCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004415.4:c.8291_8292insTGCT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005022493Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 23, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

Garcia-Pavia P, Syrris P, Salas C, Evans A, Mirelis JG, Cobo-Marcos M, Vilches C, Bornstein B, Segovia J, Alonso-Pulpon L, Elliott PM.

Heart. 2011 Nov;97(21):1744-52. doi: 10.1136/hrt.2011.227967. Epub 2011 Aug 22.

PubMed [citation]
PMID:
21859740

Details of each submission

From Ambry Genetics, SCV005022493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.8291_8292insTGCT variant, located in coding exon 24 of the DSP gene, results from an insertion of 4 nucleotides at position 8291, causing a translational frameshift with a predicted alternate stop codon (p.Q2765Afs*23). This alteration occurs at the 3' terminus of theDSP gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 107 amino acids (3.7%) of the protein. The exact functional effect of this alteration is unknown. This variant (referred to as c.8290_8291insTGCT) has been detected in a proband diagnosed with dilated cardiomyopathy (DCM) who suffered a cardiac arrest and required heart transplant in her 30s, an asymptomatic sibling with DCM, and two additional relatives who were unaffected at the time of study (Garcia-Pavia P et al. Heart, 2011 Nov;97:1744-52). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024