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NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Oct 6, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001812025.24

Allele description [Variation Report for NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)]

NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
Other names:
p.I2869V:ATT>GTT
HGVS:
  • NC_000006.12:g.7585867A>G
  • NG_008803.1:g.49231A>G
  • NM_001008844.3:c.6808A>G
  • NM_001319034.2:c.7276A>G
  • NM_004415.4:c.8605A>GMANE SELECT
  • NP_001008844.1:p.Ile2270Val
  • NP_001305963.1:p.Ile2426Val
  • NP_004406.2:p.Ile2869Val
  • LRG_423t1:c.8605A>G
  • LRG_423:g.49231A>G
  • NC_000006.11:g.7586100A>G
  • NM_004415.2:c.8605A>G
Protein change:
I2270V
Links:
dbSNP: rs28763971
NCBI 1000 Genomes Browser:
rs28763971
Molecular consequence:
  • NM_001008844.3:c.6808A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.7276A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.8605A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000883750ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Oct 6, 2023) 		germlineclinical testing

Citation Link,

SCV004042250CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Oct 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883750.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004042250.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

DSP: BP4, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024