LAMA2 : c.1856G>A

LAMA2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1856G>Ap.R619H (Arg > His)substitutionmissense chr6:129571330 (forward strand)0.18275589

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.18275589 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.13458656
8978 / 66708		0.54354095
5655 / 10404		0.08323632
715 / 8590		0.23764535
3924 / 16512		0.12757487
1474 / 11554		0.18835098
1245 / 6610		0.19247788
174 / 904		0.18275589
22165 / 121282
ESP 0.14000
1204 / 8600		 0.52292
2304 / 4406		 0.26972
3508 / 13006
1KG
 0.14356
116 / 808		 0.59607
788 / 1322		 0.08433
85 / 1008		 0.24029
235 / 978		 0.13401
93 / 694		 0.20202
40 / 198		 0.27097
1357 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.12637
23 / 182
British
0.47541
58 / 122
African-American
0.06989
13 / 186
Chinese Dai
0.22093
38 / 172
Bengali
0.17021
32 / 188
Colombian
0.13551
29 / 214
Iberian
0.60417
116 / 192
African-Caribbean
0.05340
11 / 206
Han, Beijing
0.23786
49 / 206
Gujarati Indian
0.14062
18 / 128
Mexican, LA
0.12617
27 / 214
Toscani
0.72222
143 / 198
Esan, Nigeria
0.12981
27 / 208
Japanese
0.22549
46 / 204
Indian Telugu
0.04706
8 / 170
Peruvian
0.18687
37 / 198
Utah Europeans
0.58850
133 / 226
Gambian
0.09596
19 / 198
Kinh, Vietnam
0.25521
49 / 192
Punjabi, Lahore
0.16827
35 / 208
Puerto Rican
0.53030
105 / 198
Luhya, Kenya
0.07143
15 / 210
Southern Han
0.25980
53 / 204
Tamil
0.55294
94 / 170
Mende
0.64352
139 / 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 ENST00000421865 LRG_409t1NM_000426.3
Protein ENSP00000400365 LRG_409p1P24043

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) low impact tolerated


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.