NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 26, 2021
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:: RCV001760031.3

Allele description [Variation Report for NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)]

NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)

HGVS:

NC_000006.12:g.7579877_7579879dup
NG_008803.1:g.43241_43243dup
NM_001008844.3:c.3582+105_3582+107dup
NM_001319034.2:c.3687_3689dup
NM_004415.4:c.3687_3689dupMANE SELECT
NP_001305963.1:p.Glu1229dup
NP_004406.2:p.Glu1229dup
LRG_423t1:c.3687_3689dup
LRG_423:g.43241_43243dup
NC_000006.11:g.7580107_7580108insGAG
NC_000006.11:g.7580110_7580112dup
NM_004415.2:c.3687_3689dup
NM_004415.3:c.3687_3689dupGGA

Links:

dbSNP: rs1561697838

NCBI 1000 Genomes Browser:

rs1561697838

Molecular consequence:

NM_001319034.2:c.3687_3689dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004415.4:c.3687_3689dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001008844.3:c.3582+105_3582+107dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Gallus gallus winged helix protein CWH-2 mRNA, complete cds
Gallus gallus winged helix protein CWH-2 mRNA, complete cds
gi|1766074|gb|U37273.1|GGU37273

Nucleotide
Homologene neighbors for GEO Profiles (Select 121028535) (0)
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Homologene neighbors for GEO Profiles (Select 132487959) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 78798074) (0)
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Homologene neighbors for GEO Profiles (Select 78757203) (0)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001998306	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 20, 2020)	germline	clinical testing	Citation Link,
SCV002503203	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 26, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001998306

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 20, 2020)

germline

clinical testing

Citation Link,

SCV002503203

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 26, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV001998306.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame duplication of one amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002503203.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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