NM_004415.4(DSP):c.7848G>A (p.Ser2616=) AND Cardiomyopathy

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000769243.2

Allele description [Variation Report for NM_004415.4(DSP):c.7848G>A (p.Ser2616=)]

NM_004415.4(DSP):c.7848G>A (p.Ser2616=)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.7848G>A (p.Ser2616=)
HGVS:
  • NC_000006.12:g.7585110G>A
  • NG_008803.1:g.48474G>A
  • NM_001008844.3:c.6051G>A
  • NM_001319034.2:c.6519G>A
  • NM_004415.4:c.7848G>AMANE SELECT
  • NP_001008844.1:p.Ser2017=
  • NP_001305963.1:p.Ser2173=
  • NP_004406.2:p.Ser2616=
  • LRG_423t1:c.7848G>A
  • LRG_423:g.48474G>A
  • NC_000006.11:g.7585343G>A
  • NM_004415.2:c.7848G>A
Links:
dbSNP: rs148798300
NCBI 1000 Genomes Browser:
rs148798300
Molecular consequence:
  • NM_001008844.3:c.6051G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001319034.2:c.6519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004415.4:c.7848G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000900619CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repositorycriteria provided, single submitter
Uncertain significance
(Nov 4, 2015)
germlineclinical testing

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

SCV001346171Color Health, Inccriteria provided, single submitter
Likely benign
(May 4, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Health, Inc, SCV001346171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 12, 2021

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