ANK2 : c.8404C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.8404C>T	p.P2802S (Pro > Ser)	substitution	missense	chr4:114278277 (forward strand)	0.09003708

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.09003708 (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	0.04137311 2760 / 66710	0.36141566 3758 / 10398	0.12031033 1039 / 8636	0.11161579 1843 / 16512	0.11510543 1332 / 11572	0.01905050 126 / 6614	0.07488987 68 / 908	0.09003708 10926 / 121350
ESP	0.04570 393 / 8600	0.34249 1509 / 4406						0.14624 1902 / 13006
1KG	0.04950 40 / 808	0.42057 556 / 1322	0.11409 115 / 1008	0.11861 116 / 978	0.15706 109 / 694	0.02525 5 / 198		0.18790 941 / 5008

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

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

0.02747 5 / 182 British	0.25410 31 / 122 African-American	0.12366 23 / 186 Chinese Dai	0.15116 26 / 172 Bengali	0.11170 21 / 188 Colombian
0.06075 13 / 214 Iberian	0.34375 66 / 192 African-Caribbean	0.13107 27 / 206 Han, Beijing	0.09223 19 / 206 Gujarati Indian	0.14062 18 / 128 Mexican, LA
0.06542 14 / 214 Toscani	0.40404 80 / 198 Esan, Nigeria	0.12019 25 / 208 Japanese	0.09314 19 / 204 Indian Telugu	0.22353 38 / 170 Peruvian
0.04040 8 / 198 Utah Europeans	0.42920 97 / 226 Gambian	0.07071 14 / 198 Kinh, Vietnam	0.10938 21 / 192 Punjabi, Lahore	0.15385 32 / 208 Puerto Rican
	0.60101 119 / 198 Luhya, Kenya	0.12381 26 / 210 Southern Han	0.15196 31 / 204 Tamil
	0.41176 70 / 170 Mende
	0.43056 93 / 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	ENST00000264366	LRG_327t1
Protein	ENSP00000264366	LRG_327p1		I6L894

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
	moderately conservative
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.