NM_004415.4(DSP):c.1dup (p.Met1fs) AND Cardiovascular phenotype

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 22, 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:: RCV000622220.1

Allele description [Variation Report for NM_004415.4(DSP):c.1dup (p.Met1fs)]

NM_004415.4(DSP):c.1dup (p.Met1fs)

Genes:

DSP-AS1:DSP antisense RNA 1 [Gene - HGNC]
DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.1dup (p.Met1fs)

Other names:

p.?

HGVS:

NC_000006.12:g.7541916dup
NG_008803.1:g.5280dup
NM_001008844.3:c.1dup
NM_001319034.2:c.1dup
NM_004415.4:c.1dupMANE SELECT
NP_001008844.1:p.Met1fs
NP_001305963.1:p.Met1fs
NP_004406.2:p.Met1fs
LRG_423t1:c.1dup
LRG_423:g.5280dup
NC_000006.11:g.7542149dup
NM_004415.2:c.1dupA
NM_004415.3:c.1dup
NM_004415.4:c.1dupAMANE SELECT
c.-1_1insA

Protein change:

M1fs

Links:

dbSNP: rs17133512

NCBI 1000 Genomes Browser:

rs17133512

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000734861	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Benign (Dec 22, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000734861

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Benign
(Dec 22, 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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000734861.3

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

Description

Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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

Last Updated: Oct 8, 2024

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