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NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 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:
RCV003365310.2

Allele description [Variation Report for NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)]

NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)
HGVS:
  • NC_000006.12:g.7579799_7579800delinsAG
  • NG_008803.1:g.43163_43164delinsAG
  • NM_001008844.3:c.3582+27_3582+28delinsAG
  • NM_001319034.2:c.3609_3610delinsAG
  • NM_004415.2:c.3609_3610delGAinsAG
  • NM_004415.4:c.3609_3610delinsAGMANE SELECT
  • NP_001305963.1:p.Met1203_Ser1204delinsIleGly
  • NP_004406.2:p.Met1203_Ser1204delinsIleGly
  • LRG_423t1:c.3609_3610delGAinsAG
  • LRG_423:g.43163_43164delinsAG
  • NC_000006.11:g.7580032_7580033delinsAG
Links:
dbSNP: rs1759361326
NCBI 1000 Genomes Browser:
rs1759361326
Molecular consequence:
  • NM_001008844.3:c.3582+27_3582+28delinsAG - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.3609_3610delinsAG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3609_3610delinsAG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004057601Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 22, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Implications of Genetic Testing in Dilated Cardiomyopathy.

Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG.

Circ Genom Precis Med. 2020 Oct;13(5):476-487. doi: 10.1161/CIRCGEN.120.003031. Epub 2020 Sep 3.

PubMed [citation]
PMID:
32880476

Details of each submission

From Ambry Genetics, SCV004057601.2

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

Description

The c.3609_3610delGAinsAG variant (also known as p.M1203_S1204delinsIG), located in coding exon 23 of the DSP gene, results from an in-frame deletion of GA and insertion of AG at nucleotide positions 3609 to 3610. This results in the substitution of methionine and serine residues for an isoleucine and glycine residue at codons 1203 and 1204. This variant has been detected in an individual from a dilated cardiomyopathy cohort (Verdonschot JAJ et al. Circ Genom Precis Med, 2020 Oct;13:476-487). These amino acid positions are well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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