CACNB2 : c.1803T>G

CACNB2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1803T>Gp.D601E (Asp > Glu)substitutionmissense chr10:18828635 (forward strand)0.13816761

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13816761 (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
ExAC0.18264491
11930 / 65318		0.10777599
1070 / 9928		0.00070126
6 / 8556		0.07323171
1201 / 16400		0.07383307
851 / 11526		0.19349470
1279 / 6610		0.15324385
137 / 894		0.13816761
16474 / 119232
ESP 0.17287
1486 / 8596		 0.11008
485 / 4406		 0.15159
1971 / 13002
1KG
 0.20421
165 / 808		 0.09531
126 / 1322		 0.00000
0 / 1008		 0.08384
82 / 978		 0.11383
79 / 694		 0.17172
34 / 198		 0.09704
486 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.17582
32 / 182
British
0.11475
14 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.09884
17 / 172
Bengali
0.12766
24 / 188
Colombian
0.18224
39 / 214
Iberian
0.14062
27 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.17476
36 / 206
Gujarati Indian
0.12500
16 / 128
Mexican, LA
0.24766
53 / 214
Toscani
0.06566
13 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.03922
8 / 204
Indian Telugu
0.04706
8 / 170
Peruvian
0.20707
41 / 198
Utah Europeans
0.07522
17 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.07292
14 / 192
Punjabi, Lahore
0.14904
31 / 208
Puerto Rican
0.08586
17 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.03431
7 / 204
Tamil
0.09412
16 / 170
Mende
0.10185
22 / 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 ENST00000377329 LRG_381t2NM_201590.2
Protein ENSP00000366546 LRG_381p2

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
25% of algorithms have predicted that this variant will adversely affect protein function
damaging conservative
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) low impact damaging


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.