NM_170707.4(LMNA):c.1086del (p.Leu363fs) AND Primary dilated cardiomyopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 15, 2013
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:: RCV000143910.2

Allele description [Variation Report for NM_170707.4(LMNA):c.1086del (p.Leu363fs)]

NM_170707.4(LMNA):c.1086del (p.Leu363fs)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.1086del (p.Leu363fs)

HGVS:

NC_000001.11:g.156136050del
NG_008692.2:g.58478del
NM_001257374.3:c.750del
NM_001282624.2:c.843del
NM_001282625.2:c.1086del
NM_001282626.2:c.1086del
NM_005572.4:c.1086del
NM_170707.4:c.1086delMANE SELECT
NM_170708.4:c.1086del
NP_001244303.1:p.Leu251fs
NP_001269553.1:p.Leu282fs
NP_001269554.1:p.Leu363fs
NP_001269555.1:p.Leu363fs
NP_005563.1:p.Leu363fs
NP_733821.1:p.Leu363fs
NP_733822.1:p.Leu363fs
LRG_254:g.58478del
NC_000001.10:g.156105841del
NM_170707.2:c.1085_1085delT
NM_170707.3:c.1086delT

Protein change:

L251fs

Links:

dbSNP: rs58389804

NCBI 1000 Genomes Browser:

rs58389804

Molecular consequence:

NM_001257374.3:c.750del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282624.2:c.843del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282625.2:c.1086del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282626.2:c.1086del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005572.4:c.1086del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170707.4:c.1086del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_170708.4:c.1086del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188781	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Pathogenic (Dec 15, 2013)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16537768, 21689390 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188781

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Pathogenic
(Dec 15, 2013)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

Kärkkäinen S, Reissell E, Heliö T, Kaartinen M, Tuomainen P, Toivonen L, Kuusisto J, Kupari M, Nieminen MS, Laakso M, Peuhkurinen K.

Heart. 2006 Apr;92(4):524-6. No abstract available.

PubMed [citation]

PMID:: 16537768
PMCID:: PMC1860858

Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.

Holmström M, Kivistö S, Heliö T, Jurkko R, Kaartinen M, Antila M, Reissell E, Kuusisto J, Kärkkäinen S, Peuhkurinen K, Koikkalainen J, Lötjönen J, Lauerma K.

J Cardiovasc Magn Reson. 2011 Jun 20;13:30. doi: 10.1186/1532-429X-13-30.

PubMed [citation]

PMID:: 21689390
PMCID:: PMC3135551

Details of each submission

From Blueprint Genetics, SCV000188781.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	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		2	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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