LAMA4 : c.3335C>G

LAMA4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3335C>Gp.P1112R (Pro > Arg)substitutionmissense chr6:112457383 (reverse strand)0.22490261

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.22490261 (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
ExAC0.25597167
17060 / 66648		0.14314594
1487 / 10388		0.34467490
2958 / 8582		0.15103599
2493 / 16506		0.16892126
1948 / 11532		0.17075386
1128 / 6606		0.19536424
177 / 906		0.22490261
27251 / 121168
ESP 0.26035
2239 / 8600		 0.14730
649 / 4406		 0.22205
2888 / 13006
1KG
 0.25248
204 / 808		 0.12330
163 / 1322		 0.36012
363 / 1008		 0.15235
149 / 978		 0.21037
146 / 694		 0.14646
29 / 198		 0.21046
1054 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.23077
42 / 182
British
0.14754
18 / 122
African-American
0.38710
72 / 186
Chinese Dai
0.16860
29 / 172
Bengali
0.21809
41 / 188
Colombian
0.28037
60 / 214
Iberian
0.13021
25 / 192
African-Caribbean
0.36893
76 / 206
Han, Beijing
0.18932
39 / 206
Gujarati Indian
0.25781
33 / 128
Mexican, LA
0.25701
55 / 214
Toscani
0.11111
22 / 198
Esan, Nigeria
0.30769
64 / 208
Japanese
0.12745
26 / 204
Indian Telugu
0.19412
33 / 170
Peruvian
0.23737
47 / 198
Utah Europeans
0.14159
32 / 226
Gambian
0.36869
73 / 198
Kinh, Vietnam
0.12500
24 / 192
Punjabi, Lahore
0.18750
39 / 208
Puerto Rican
0.11616
23 / 198
Luhya, Kenya
0.37143
78 / 210
Southern Han
0.15196
31 / 204
Tamil
0.07647
13 / 170
Mende
0.13889
30 / 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

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
50% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately radical probably damaging probably damaging
LRT MutationTaster MutationAssessor FATHMM
deleterious 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.