NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) AND Arrhythmogenic right ventricular cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 16, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000038027.5

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]

Observations:

Condition(s)

Name:: Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:: Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:: MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061693	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Likely pathogenic (Nov 16, 2007)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061693

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Likely pathogenic
(Nov 16, 2007)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	6	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061693.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		6	not provided	1	not provided

Last Updated: Sep 29, 2024

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