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NM_004415.4(DSP):c.778-20C>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 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:
RCV000589018.1

Allele description [Variation Report for NM_004415.4(DSP):c.778-20C>T]

NM_004415.4(DSP):c.778-20C>T

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.778-20C>T
HGVS:
  • NC_000006.12:g.7565339C>T
  • NG_008803.1:g.28703C>T
  • NM_001008844.3:c.778-20C>T
  • NM_001319034.2:c.778-20C>T
  • NM_004415.4:c.778-20C>TMANE SELECT
  • LRG_423t1:c.778-20C>T
  • LRG_423:g.28703C>T
  • NC_000006.11:g.7565572C>T
  • NM_004415.2:c.778-20C>T
Links:
dbSNP: rs762596346
NCBI 1000 Genomes Browser:
rs762596346
Molecular consequence:
  • NM_001008844.3:c.778-20C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.778-20C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004415.4:c.778-20C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000698447Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 30, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698447.1

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

Description

Variant summary: The DSP c.778-20C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/120890 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic DSP variant (0.0002). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Sep 29, 2024