ELN : c.1264G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1264G>A	p.G422S (Gly > Ser)	substitution	missense	chr7:73470714 (forward strand)	0.32623202

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.32623202 (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	0.41683400 27817 / 66734	0.16769172 1745 / 10406	0.11513539 995 / 8642	0.24185342 3993 / 16510	0.20646164 2390 / 11576	0.35340393 2336 / 6610	0.35682819 324 / 908	0.32623202 39600 / 121386
ESP	0.41291 3551 / 8600	0.17680 779 / 4406						0.33292 4330 / 13006
1KG	0.44678 361 / 808	0.13389 177 / 1322	0.10813 109 / 1008	0.22904 224 / 978	0.24640 171 / 694	0.31313 62 / 198		0.22045 1104 / 5008

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

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

0.45055 82 / 182 British	0.18852 23 / 122 African-American	0.04839 9 / 186 Chinese Dai	0.19767 34 / 172 Bengali	0.25532 48 / 188 Colombian
0.51402 110 / 214 Iberian	0.13021 25 / 192 African-Caribbean	0.12621 26 / 206 Han, Beijing	0.20874 43 / 206 Gujarati Indian	0.21875 28 / 128 Mexican, LA
0.43925 94 / 214 Toscani	0.11111 22 / 198 Esan, Nigeria	0.17308 36 / 208 Japanese	0.21078 43 / 204 Indian Telugu	0.12353 21 / 170 Peruvian
0.37879 75 / 198 Utah Europeans	0.12389 28 / 226 Gambian	0.07071 14 / 198 Kinh, Vietnam	0.26042 50 / 192 Punjabi, Lahore	0.35577 74 / 208 Puerto Rican
	0.18182 36 / 198 Luhya, Kenya	0.11429 24 / 210 Southern Han	0.26471 54 / 204 Tamil
	0.11176 19 / 170 Mende
	0.11111 24 / 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	ENST00000252034		U93034.1
Protein	ENSP00000252034

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