NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 2015
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:: RCV000480618.1

Allele description [Variation Report for NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)]

NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)

HGVS:

NC_000006.11:g.7579580_7579589del
NC_000006.12:g.7579350_7579359del
NG_008803.1:g.42714_42723del
NM_001008844.3:c.3160_3169del
NM_001319034.2:c.3160_3169del
NM_004415.4:c.3160_3169delMANE SELECT
NP_001008844.1:p.Lys1054fs
NP_001305963.1:p.Lys1054fs
NP_004406.2:p.Lys1054fs
LRG_423t1:c.3160_3169del
LRG_423:g.42714_42723del
NC_000006.11:g.7579580_7579589del
NC_000006.11:g.7579583_7579592del
NC_000006.11:g.7579583_7579592delAAGAACAAAT
NM_004415.2:c.3160_3169delAAGAACAAAT
c.3160_3169delAAGAACAAAT
p.Lys1054SerfsX26

Protein change:

K1054fs

Links:

dbSNP: rs397516932

NCBI 1000 Genomes Browser:

rs397516932

Molecular consequence:

NM_001008844.3:c.3160_3169del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319034.2:c.3160_3169del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004415.4:c.3160_3169del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Prunus stacei (0)
Nucleotide
serine/threonine-protein phosphatase 4 regulatory subunit 1 [Brachionichthys hir...
serine/threonine-protein phosphatase 4 regulatory subunit 1 [Brachionichthys hirsutus]
gi|2813773595|ref|XP_068598311.1|

Protein
sgMYB_5.2_MOLM13
sgMYB_5.2_MOLM13

biosample
SRP122884 (15)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566973	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 23, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566973

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 23, 2015)

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, SCV000566973.4

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

Description

The c.3160_3169del10 variant in the DSP gene has been reported in at least one individual enrolled in theJohns Hopkins ARVD/C registry (Bhonsale et al., 2013). This deletion causes a shift in reading framestarting at codon Lysine 1054, changing it to a Serine, and creating a premature stop codon at position 26of the new reading frame, denoted p.Lys1054SerfsX26. This deletion is expected to result in either anabnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNAdecay. Other frameshift variants in the DSP gene have been reported in HGMD in association withcardiomyopathy (Stenson P et al., 2014). Furthermore, the c.3160_3169del10 variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.In summary, c.3160_3169del10 in the DSP gene is interpreted as a pathogenic variant.

#	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: Sep 29, 2024

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