LMNA : c.1698C>T

LMNA gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1698C>Tp.H566Hsubstitutionsplice site chr1:156107534 (forward strand)0.26550464

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.26550464 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

OMGL: Detected in 0 / 304 DCM patients.

LMM:   Detected in 0 / 740 DCM patients.

ARVC

OMGL: Detected in 0 / 93 ARVC patients sequenced at OMGL.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.28167829
2343 / 8318		0.09977578
267 / 2676		0.30810811
228 / 740		0.29425898
2327 / 7908		0.36597938
142 / 388		0.25000000
10 / 40		0.32967033
60 / 182		0.26550464
5377 / 20252
ESP 0.25309
2046 / 8084		 0.08814
367 / 4164		 0.19701
2413 / 12248
1KG
 0.24010
194 / 808		 0.06581
87 / 1322		 0.27381
276 / 1008		 0.31186
305 / 978		 0.30115
209 / 694		 0.16162
32 / 198		 0.22025
1103 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.26374
48 / 182
British
0.09016
11 / 122
African-American
0.25269
47 / 186
Chinese Dai
0.30233
52 / 172
Bengali
0.24468
46 / 188
Colombian
0.24299
52 / 214
Iberian
0.08854
17 / 192
African-Caribbean
0.30583
63 / 206
Han, Beijing
0.30097
62 / 206
Gujarati Indian
0.28125
36 / 128
Mexican, LA
0.21028
45 / 214
Toscani
0.05556
11 / 198
Esan, Nigeria
0.23558
49 / 208
Japanese
0.32353
66 / 204
Indian Telugu
0.43529
74 / 170
Peruvian
0.24747
49 / 198
Utah Europeans
0.07080
16 / 226
Gambian
0.32828
65 / 198
Kinh, Vietnam
0.31771
61 / 192
Punjabi, Lahore
0.25481
53 / 208
Puerto Rican
0.05051
10 / 198
Luhya, Kenya
0.24762
52 / 210
Southern Han
0.31373
64 / 204
Tamil
0.02941
5 / 170
Mende
0.07870
17 / 216
Yoruba, Nigeria

The Exome Aggregation Consortium (ExAC) is a database of 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. There is partial overlap between ExAC and 1000 Genomes (1KG) (1,851 of the 2,504 samples in 1KG) and the Exome Sequencing Project (ESP) (3,936 of the 6,500 samples in ESP).


Other Variant & Gene Details

Canonical Sequences
Transcript ENST00000368300 LRG_254t2NM_170707.3
Protein ENSP00000357283 LRG_254p2



References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.

3. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.