LAMA4 : c.5305+6T>G

LAMA4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.5305+6T>Gsubstitutionsplice site chr6:112435273 (reverse strand)0.23923374

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.23923374 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

LMM:   Detected in 0 / 121 DCM patients.

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
ExAC0.26782875
17854 / 66662		0.23806315
2473 / 10388		0.32120510
2772 / 8630		0.14009691
2313 / 16510		0.17732962
2040 / 11504		0.20484115
1354 / 6610		0.21145374
192 / 908		0.23923374
28998 / 121212
ESP 0.27163
2336 / 8600		 0.23173
1021 / 4406		 0.25811
3357 / 13006
1KG
 0.25866
209 / 808		 0.23903
316 / 1322		 0.34722
350 / 1008		 0.14417
141 / 978		 0.22046
153 / 694		 0.16667
33 / 198		 0.24002
1202 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.24176
44 / 182
British
0.24590
30 / 122
African-American
0.42473
79 / 186
Chinese Dai
0.17442
30 / 172
Bengali
0.21809
41 / 188
Colombian
0.29907
64 / 214
Iberian
0.25000
48 / 192
African-Caribbean
0.34951
72 / 206
Han, Beijing
0.18932
39 / 206
Gujarati Indian
0.28125
36 / 128
Mexican, LA
0.25701
55 / 214
Toscani
0.29798
59 / 198
Esan, Nigeria
0.26923
56 / 208
Japanese
0.11275
23 / 204
Indian Telugu
0.18235
31 / 170
Peruvian
0.23232
46 / 198
Utah Europeans
0.23009
52 / 226
Gambian
0.34848
69 / 198
Kinh, Vietnam
0.11979
23 / 192
Punjabi, Lahore
0.21635
45 / 208
Puerto Rican
0.22727
45 / 198
Luhya, Kenya
0.35238
74 / 210
Southern Han
0.12745
26 / 204
Tamil
0.18824
32 / 170
Mende
0.23148
50 / 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 ENST00000424408 LRG_433t2NM_002290.3
Protein ENSP00000416470 LRG_433p2



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.