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NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 30, 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:
RCV002402457.2

Allele description [Variation Report for NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)]

NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
HGVS:
  • NC_000006.12:g.7584964G>A
  • NG_008803.1:g.48328G>A
  • NM_001008844.3:c.5905G>A
  • NM_001319034.2:c.6373G>A
  • NM_004415.4:c.7702G>AMANE SELECT
  • NP_001008844.1:p.Gly1969Ser
  • NP_001305963.1:p.Gly2125Ser
  • NP_004406.2:p.Gly2568Ser
  • LRG_423t1:c.7702G>A
  • LRG_423:g.48328G>A
  • NC_000006.11:g.7585197G>A
  • NM_004415.2:c.7702G>A
Protein change:
G1969S
Links:
dbSNP: rs139486943
NCBI 1000 Genomes Browser:
rs139486943
Molecular consequence:
  • NM_001008844.3:c.5905G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.6373G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.7702G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002674428Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 30, 2023) 		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

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Fedida J, Fressart V, Charron P, Surget E, Hery T, Richard P, Donal E, Keren B, Duthoit G, Hidden-Lucet F, Villard E, Gandjbakhch E.

PLoS One. 2017;12(8):e0181840. doi: 10.1371/journal.pone.0181840.

PubMed [citation]
PMID:
28767663
PMCID:
PMC5540585

Details of each submission

From Ambry Genetics, SCV002674428.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024