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NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 2020
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:
RCV001550002.2

Allele description [Variation Report for NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)]

NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
HGVS:
  • NC_000006.12:g.7579533A>G
  • NG_008803.1:g.42897A>G
  • NM_001008844.3:c.3343A>G
  • NM_001319034.2:c.3343A>G
  • NM_004415.4:c.3343A>GMANE SELECT
  • NP_001008844.1:p.Thr1115Ala
  • NP_001305963.1:p.Thr1115Ala
  • NP_004406.2:p.Thr1115Ala
  • LRG_423t1:c.3343A>G
  • LRG_423:g.42897A>G
  • NC_000006.11:g.7579766A>G
  • NM_004415.2:c.3343A>G
Protein change:
T1115A
Links:
dbSNP: rs761524542
NCBI 1000 Genomes Browser:
rs761524542
Molecular consequence:
  • NM_001008844.3:c.3343A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.3343A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.3343A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001770258GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Oct 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001770258.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 666097; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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

Last Updated: Sep 29, 2024