NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) AND Primary dilated cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 9, 2016
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:: RCV000041308.6

Allele description [Variation Report for NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)]

NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)

HGVS:

NC_000001.11:g.156136093C>T
NG_008692.2:g.58521C>T
NM_001257374.3:c.793C>T
NM_001282624.2:c.886C>T
NM_001282625.2:c.1129C>T
NM_001282626.2:c.1129C>T
NM_005572.4:c.1129C>T
NM_170707.4:c.1129C>TMANE SELECT
NM_170708.4:c.1129C>T
NP_001244303.1:p.Arg265Cys
NP_001269553.1:p.Arg296Cys
NP_001269554.1:p.Arg377Cys
NP_001269555.1:p.Arg377Cys
NP_005563.1:p.Arg377Cys
NP_005563.1:p.Arg377Cys
NP_733821.1:p.Arg377Cys
NP_733822.1:p.Arg377Cys
LRG_254t1:c.1129C>T
LRG_254t2:c.1129C>T
LRG_254:g.58521C>T
LRG_254p1:p.Arg377Cys
NC_000001.10:g.156105884C>T
NM_005572.3:c.1129C>T
NM_170707.2:c.1129C>T
NM_170707.3:c.1129C>T
c.1129C>T
p.(Arg377Cys)

Protein change:

R265C

Links:

dbSNP: rs397517889

NCBI 1000 Genomes Browser:

rs397517889

Molecular consequence:

NM_001257374.3:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282624.2:c.886C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282625.2:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282626.2:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005572.4:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_170707.4:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_170708.4:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000065000	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Nov 9, 2016)	germline	clinical testing	PubMed (15) [See all records that cite these PMIDs] 18035086, 12032588, 10814726, 16990647, 18646565, 20576434, 21632249, 16407522, 21840938, 12920062, 21483645, 16386954, 24503780, 23183350, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000065000

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Nov 9, 2016)

germline

clinical testing

PubMed (15)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	5	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP; Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands..

Am Heart J. 2007 Dec;154(6):1130-9. Epub 2007 Sep 14.

PubMed [citation]

PMID:: 18035086

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW.

J Hum Genet. 2002;47(5):225-8.

PubMed [citation]

PMID:: 12032588

See all PubMed Citations (15)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065000.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (15)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	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		5	not provided	1	not provided

Last Updated: Sep 29, 2024

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