NM_001943.5(DSG2):c.2955del (p.Val986fs) AND Dilated cardiomyopathy 1BB

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 4, 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:: RCV000496079.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2955del (p.Val986fs)]

NM_001943.5(DSG2):c.2955del (p.Val986fs)

Genes:

DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001943.5(DSG2):c.2955del (p.Val986fs)

HGVS:

NC_000018.10:g.31546341del
NG_007072.3:g.53100del
NM_001943.5:c.2955delMANE SELECT
NP_001934.2:p.Val986fs
LRG_397t1:c.2955del
LRG_397:g.53100del
NC_000018.9:g.29126303del
NC_000018.9:g.29126304del
NM_001943.3:c.2955del
NM_001943.3:c.2955delT

Protein change:

V986fs

Links:

dbSNP: rs1064794709

NCBI 1000 Genomes Browser:

rs1064794709

Molecular consequence:

NM_001943.5:c.2955del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Dilated cardiomyopathy 1BB (CMD1BB)
Synonyms:: CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0013030; MedGen: C2752072; Orphanet: 154; OMIM: 612877

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584086	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha	criteria provided, single submitter (HA_assertions_20150911)	Pathogenic (Sep 4, 2015)	unknown, maternal	research	HA_assertions_20150911.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000584086

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha

criteria provided, single submitter

(HA_assertions_20150911)

Pathogenic
(Sep 4, 2015)

unknown, maternal

research

HA_assertions_20150911.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	1	not provided	not provided	1	not provided	research
not provided	unknown	unknown	1	not provided	not provided	1	not provided	research

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha, SCV000584086.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided
2	not provided	1	not provided	not provided	research	not provided

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

Last Updated: May 16, 2025

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