CTNNA3 : c.1787G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1787G>A	p.S596N (Ser > Asn)	substitution	missense	chr10:68040325 (reverse strand)	0.41196636

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.41196636 (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
ExAC	0.37465457 24946 / 66584	0.67878438 7058 / 10398	0.43236044 3733 / 8634	0.37936258 6261 / 16504	0.40605318 4642 / 11432	0.43619279 2878 / 6598	0.38962472 353 / 906	0.41196636 49871 / 121056
ESP	0.36209 3114 / 8600	0.67045 2954 / 4406						0.46655 6068 / 13006
1KG	0.36386 294 / 808	0.72693 961 / 1322	0.41865 422 / 1008	0.39162 383 / 978	0.41210 286 / 694	0.41919 83 / 198		0.48502 2429 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.34066 62 / 182 British	0.68033 83 / 122 African-American	0.41398 77 / 186 Chinese Dai	0.45930 79 / 172 Bengali	0.36702 69 / 188 Colombian
0.38318 82 / 214 Iberian	0.67188 129 / 192 African-Caribbean	0.44175 91 / 206 Han, Beijing	0.38350 79 / 206 Gujarati Indian	0.42188 54 / 128 Mexican, LA
0.37383 80 / 214 Toscani	0.75253 149 / 198 Esan, Nigeria	0.44231 92 / 208 Japanese	0.32843 67 / 204 Indian Telugu	0.42353 72 / 170 Peruvian
0.35354 70 / 198 Utah Europeans	0.71681 162 / 226 Gambian	0.38889 77 / 198 Kinh, Vietnam	0.38542 74 / 192 Punjabi, Lahore	0.43750 91 / 208 Puerto Rican
	0.71717 142 / 198 Luhya, Kenya	0.40476 85 / 210 Southern Han	0.41176 84 / 204 Tamil
	0.78824 134 / 170 Mende
	0.75000 162 / 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	ENST00000433211		NM_013266.2
Protein	ENSP00000389714			Q9UI47

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	neutral	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.