NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 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:: RCV000433081.1

Allele description [Variation Report for NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)]

NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)

HGVS:

NC_000006.12:g.7583066A>G
NG_008803.1:g.46430A>G
NM_001008844.3:c.4007A>G
NM_001319034.2:c.4475A>G
NM_004415.3:c.5804A>G
NM_004415.4:c.5804A>GMANE SELECT
NP_001008844.1:p.Tyr1336Cys
NP_001305963.1:p.Tyr1492Cys
NP_004406.2:p.Tyr1935Cys
LRG_423t1:c.5804A>G
LRG_423:g.46430A>G
NC_000006.11:g.7583299A>G
NM_004415.2:c.5804A>G

Protein change:

Y1336C

Links:

dbSNP: rs777048976

NCBI 1000 Genomes Browser:

rs777048976

Molecular consequence:

NM_001008844.3:c.4007A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001319034.2:c.4475A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004415.4:c.5804A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536370	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 23, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000536370

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 23, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000536370.4

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

Description

A variant of uncertain significance has been identified in the DSP gene. The Y1935C variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y1935C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and 2/3 in silico algorithms predict this variant likely does not alter the 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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine