LAMA2 : c.7760C>T

LAMA2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.7760C>Tp.A2587V (Ala > Val)substitutionmissense chr6:129807629 (forward strand)0.66784216

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.66784216 (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
ExAC0.71479180
47618 / 66618		0.45673909
4751 / 10402		0.60896987
5214 / 8562		0.64580051
10657 / 16502		0.67356162
7750 / 11506		0.64643399
4260 / 6590		0.68030973
615 / 904		0.66784216
80865 / 121084
ESP 0.72651
6248 / 8600		 0.46709
2058 / 4406		 0.63863
8306 / 13006
1KG
 0.74134
599 / 808		 0.40998
542 / 1322		 0.63690
642 / 1008		 0.59816
585 / 978		 0.62392
433 / 694		 0.62121
123 / 198		 0.58387
2924 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.75275
137 / 182
British
0.39344
48 / 122
African-American
0.69892
130 / 186
Chinese Dai
0.52326
90 / 172
Bengali
0.64894
122 / 188
Colombian
0.75234
161 / 214
Iberian
0.47396
91 / 192
African-Caribbean
0.61650
127 / 206
Han, Beijing
0.64563
133 / 206
Gujarati Indian
0.64844
83 / 128
Mexican, LA
0.74766
160 / 214
Toscani
0.46970
93 / 198
Esan, Nigeria
0.63462
132 / 208
Japanese
0.60784
124 / 204
Indian Telugu
0.60000
102 / 170
Peruvian
0.71212
141 / 198
Utah Europeans
0.32301
73 / 226
Gambian
0.68687
136 / 198
Kinh, Vietnam
0.54688
105 / 192
Punjabi, Lahore
0.60577
126 / 208
Puerto Rican
0.46970
93 / 198
Luhya, Kenya
0.55714
117 / 210
Southern Han
0.65196
133 / 204
Tamil
0.34706
59 / 170
Mende
0.39352
85 / 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
50% of algorithms have predicted that this variant will adversely affect protein function
moderately conservative probably damaging probably damaging
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.