LMNA

This page contains an overview of the genetic variation in the LMNA gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

LMNA gene and transcript details

Gene Name
lamin A/C

Gene Links
Ensembl: ENSG00000160789 - Locus Reference Genomic: LRG_254

Genomic Location
Chromosome 1 : 156,084,710 - 156,108,897 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1992 bases)Protein (664 aa)
ENST00000368300 ENSP00000357283
LRG_254t2LRG_254p2
NM_170707.3

Summary of LMNA in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.044060.006223.78%
Truncating0.015330.000141.52%
Non-Truncating0.028740.006082.27%
Based on an analysis of rare variants (MAF<0.0001) in LMNA detected in a cohort of 1044 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail
VarTypeARVC FreqExAC FreqCase Excess
All0.000000.00622-0.62%
Truncating0.000000.00014-0.01%
Non-Truncating0.000000.00608-0.61%
Based on an analysis of rare variants (MAF<0.0001) in LMNA detected in a cohort of 93 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of LMNA in HCM (see study in the European Heart Journal), it is classified as:
No Evidence.


LMNA variants in ExAC

Details of the protein-altering LMNA variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants1990.00359
Truncating30.00007
Missense1710.00304
Inframe10.00001
Splice Site240.00047

Rare variants are defined as having a mean allelic frequency of less than 0.0001.