LAMA2 : c.7906A>G

LAMA2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.7906A>Gp.T2636A (Thr > Ala)substitutionmissense chr6:129813053 (forward strand)0.09253773

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.09253773 (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
ExAC0.07593270
4730 / 62292		0.11573056
1158 / 10006		0.18981934
1555 / 8192		0.09614418
1531 / 15924		0.07616195
839 / 11016		0.11326309
731 / 6454		0.08636364
76 / 880		0.09253773
10620 / 114764
ESP 0.06302
542 / 8600		 0.11552
509 / 4406		 0.08081
1051 / 13006
1KG
 0.05446
44 / 808		 0.12103
160 / 1322		 0.13194
133 / 1008		 0.14826
145 / 978		 0.07493
52 / 694		 0.12626
25 / 198		 0.11162
559 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.07143
13 / 182
British
0.13934
17 / 122
African-American
0.07527
14 / 186
Chinese Dai
0.15698
27 / 172
Bengali
0.08511
16 / 188
Colombian
0.05140
11 / 214
Iberian
0.10938
21 / 192
African-Caribbean
0.14563
30 / 206
Han, Beijing
0.14563
30 / 206
Gujarati Indian
0.10156
13 / 128
Mexican, LA
0.04673
10 / 214
Toscani
0.12626
25 / 198
Esan, Nigeria
0.15865
33 / 208
Japanese
0.12255
25 / 204
Indian Telugu
0.07059
12 / 170
Peruvian
0.05051
10 / 198
Utah Europeans
0.19912
45 / 226
Gambian
0.12626
25 / 198
Kinh, Vietnam
0.18229
35 / 192
Punjabi, Lahore
0.05288
11 / 208
Puerto Rican
0.10101
20 / 198
Luhya, Kenya
0.14762
31 / 210
Southern Han
0.13725
28 / 204
Tamil
0.09412
16 / 170
Mende
0.07407
16 / 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
25% of algorithms have predicted that this variant will adversely affect protein function
moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
deleterious polymorphism (auto) medium 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.