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NM_004415.4(DSP):c.8357A>T (p.Lys2786Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 2, 2013
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:
RCV000181350.1

Allele description [Variation Report for NM_004415.4(DSP):c.8357A>T (p.Lys2786Met)]

NM_004415.4(DSP):c.8357A>T (p.Lys2786Met)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.8357A>T (p.Lys2786Met)
Other names:
p.K2786M:AAG>ATG
HGVS:
  • NC_000006.12:g.7585619A>T
  • NG_008803.1:g.48983A>T
  • NM_001008844.3:c.6560A>T
  • NM_001319034.2:c.7028A>T
  • NM_004415.4:c.8357A>TMANE SELECT
  • NP_001008844.1:p.Lys2187Met
  • NP_001305963.1:p.Lys2343Met
  • NP_004406.2:p.Lys2786Met
  • LRG_423t1:c.8357A>T
  • LRG_423:g.48983A>T
  • NC_000006.11:g.7585852A>T
  • NM_004415.2:c.8357A>T
Protein change:
K2187M
Links:
dbSNP: rs794728134
NCBI 1000 Genomes Browser:
rs794728134
Molecular consequence:
  • NM_001008844.3:c.6560A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.7028A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.8357A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233649GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 2, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000233649.10

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

Description

p.Lys2786Met (AAG>ATG): c.8357 A>T in exon 24 of the DSP gene (NM_004415.2). The Lys2786Met variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Lys2786Met results in a non-conservative amino acid substitution of a positively charged Lysine with a non-polar Methionine at a position that is well conserved in evolution. The Lys2786Met variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby codons have been reported in association with ARVC. With the clinical and molecular information available at this time, we cannot definitively determine if Lys2786Met is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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

Last Updated: Nov 5, 2022