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NM_004415.4(DSP):c.6047G>T (p.Gly2016Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 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:
RCV000432485.1

Allele description [Variation Report for NM_004415.4(DSP):c.6047G>T (p.Gly2016Val)]

NM_004415.4(DSP):c.6047G>T (p.Gly2016Val)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.6047G>T (p.Gly2016Val)
HGVS:
  • NC_000006.12:g.7583309G>T
  • NG_008803.1:g.46673G>T
  • NM_001008844.3:c.4250G>T
  • NM_001319034.2:c.4718G>T
  • NM_004415.4:c.6047G>TMANE SELECT
  • NP_001008844.1:p.Gly1417Val
  • NP_001305963.1:p.Gly1573Val
  • NP_004406.2:p.Gly2016Val
  • LRG_423t1:c.6047G>T
  • LRG_423:g.46673G>T
  • NC_000006.11:g.7583542G>T
  • NM_004415.2:c.6047G>T
Protein change:
G1417V
Links:
dbSNP: rs771165835
NCBI 1000 Genomes Browser:
rs771165835
Molecular consequence:
  • NM_001008844.3:c.4250G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.4718G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.6047G>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
SCV000535368GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 22, 2016) 		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, SCV000535368.4

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

Description

A variant of uncertain significance has been identified in the DSP gene. The G2016V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This 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. While this substitution occurs at a position where only amino acids with similar properties to Glycine are tolerated across species, G2016V is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, in silico analysis predicts this variant is probably damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Nov 5, 2022