CAPN1 : c.1298G>C

CAPN1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1298G>Cp.R433P (Arg > Pro)substitutionmissense chr11:64972286 (forward strand)0.07756630

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07756630 (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
ExAC0.08277048
5343 / 64552		0.01886189
177 / 9384		0.21416804
1820 / 8498		0.04341737
713 / 16422		0.04579553
525 / 11464		0.07320024
484 / 6612		0.08680556
75 / 864		0.07756630
9137 / 117796
ESP 0.08070
673 / 8340		 0.01978
81 / 4096		 0.06063
754 / 12436
1KG
 0.09653
78 / 808		 0.00681
9 / 1322		 0.20437
206 / 1008		 0.03170
31 / 978		 0.04755
33 / 694		 0.03030
6 / 198		 0.07248
363 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06593
12 / 182
British
0.01639
2 / 122
African-American
0.22043
41 / 186
Chinese Dai
0.05233
9 / 172
Bengali
0.05319
10 / 188
Colombian
0.08879
19 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.22816
47 / 206
Han, Beijing
0.00971
2 / 206
Gujarati Indian
0.04688
6 / 128
Mexican, LA
0.12150
26 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.12500
26 / 208
Japanese
0.00980
2 / 204
Indian Telugu
0.01176
2 / 170
Peruvian
0.10606
21 / 198
Utah Europeans
0.00442
1 / 226
Gambian
0.22727
45 / 198
Kinh, Vietnam
0.04688
9 / 192
Punjabi, Lahore
0.07212
15 / 208
Puerto Rican
0.02525
5 / 198
Luhya, Kenya
0.22381
47 / 210
Southern Han
0.04412
9 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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 ENST00000533820 NM_001198868.1
Protein ENSP00000435272 P07384

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
75% 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) medium 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.