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NM_004415.4(DSP):c.1102A>G (p.Ile368Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 2017
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:
RCV000486549.1

Allele description

NM_004415.4(DSP):c.1102A>G (p.Ile368Val)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.1102A>G (p.Ile368Val)
HGVS:
  • NC_000006.12:g.7567411A>G
  • NG_008803.1:g.30775A>G
  • NM_001008844.3:c.1102A>G
  • NM_001319034.2:c.1102A>G
  • NM_004415.4:c.1102A>GMANE SELECT
  • NP_001008844.1:p.Ile368Val
  • NP_001305963.1:p.Ile368Val
  • NP_004406.2:p.Ile368Val
  • LRG_423t1:c.1102A>G
  • LRG_423:g.30775A>G
  • NC_000006.11:g.7567644A>G
  • NM_004415.2:c.1102A>G
Protein change:
I368V
Links:
dbSNP: rs794728112
NCBI 1000 Genomes Browser:
rs794728112
Molecular consequence:
  • NM_001008844.3:c.1102A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.1102A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.1102A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574091GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 14, 2017) 		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, SCV000574091.4

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

Description

A variant of uncertain significance has been identified in the DSP gene. The I368V variant has not been published as pathogenic or been reported as benign to our knowledge. Additionally, this variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, however, Valine is the wild-type residue in one non-mammalian species. Furthermore, the I368V variant 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.

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

Last Updated: May 16, 2022