U.S. flag

An official website of the United States government

NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 8, 2016
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:
RCV000248265.4

Allele description [Variation Report for NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)]

NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
HGVS:
  • NC_000006.12:g.7579385C>G
  • NG_008803.1:g.42749C>G
  • NM_001008844.3:c.3195C>G
  • NM_001319034.2:c.3195C>G
  • NM_004415.4:c.3195C>GMANE SELECT
  • NP_001008844.1:p.Tyr1065Ter
  • NP_001305963.1:p.Tyr1065Ter
  • NP_004406.2:p.Tyr1065Ter
  • LRG_423t1:c.3195C>G
  • LRG_423:g.42749C>G
  • NC_000006.11:g.7579618C>G
  • NM_004415.2:c.3195C>G
  • NM_004415.3:c.3195C>G
Protein change:
Y1065*
Links:
dbSNP: rs886039178
NCBI 1000 Genomes Browser:
rs886039178
Molecular consequence:
  • NM_001008844.3:c.3195C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319034.2:c.3195C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004415.4:c.3195C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320499Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 8, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000320499.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Y1065* pathogenic mutation (also known as c.3195C>G), located in coding exon 23 of the DSP gene, results from a C to G substitution at nucleotide position 3195. This changes the amino acid from a tyrosine to a stop codon within coding exon 23. Truncating alterations in DSP have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) (Fressart V et al. Europace. 2010;12(6):861-8; Elliott P et al. Circ Cardiovasc Genet. 2010;3(4):314-22; Quarta G et al. Circulation. 2011;123(23):2701-9; Garcia-Pavia P et al. Heart. 2011;97(21):1744-52; Rasmussen TB et al. Clin Genet. 2013;84(1):20-30; Pugh TJ et al. Genet Med. 2014;16(8):601-8). 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.

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

Last Updated: Sep 29, 2024