SLC2A10 : c.616G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.616G>A	p.A206T (Ala > Thr)	substitution	missense	chr20:45354291 (forward strand)	0.10087335

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.10087335 (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	0.04383983 2910 / 66378	0.26742160 2763 / 10332	0.08298563 716 / 8628	0.15112053 2495 / 16510	0.23641398 2732 / 11556	0.07518911 497 / 6610	0.09333333 84 / 900	0.10087335 12197 / 120914
ESP	0.04407 379 / 8600	0.26123 1151 / 4406						0.11764 1530 / 13006
1KG	0.04084 33 / 808	0.31089 411 / 1322	0.11607 117 / 1008	0.16769 164 / 978	0.19164 133 / 694	0.08586 17 / 198		0.17472 875 / 5008

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

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

0.06593 12 / 182 British	0.24590 30 / 122 African-American	0.12903 24 / 186 Chinese Dai	0.15116 26 / 172 Bengali	0.12766 24 / 188 Colombian
0.03738 8 / 214 Iberian	0.28646 55 / 192 African-Caribbean	0.10194 21 / 206 Han, Beijing	0.18932 39 / 206 Gujarati Indian	0.23438 30 / 128 Mexican, LA
0.03738 8 / 214 Toscani	0.33838 67 / 198 Esan, Nigeria	0.09135 19 / 208 Japanese	0.15686 32 / 204 Indian Telugu	0.37647 64 / 170 Peruvian
0.02525 5 / 198 Utah Europeans	0.28319 64 / 226 Gambian	0.12121 24 / 198 Kinh, Vietnam	0.14583 28 / 192 Punjabi, Lahore	0.07212 15 / 208 Puerto Rican
	0.29798 59 / 198 Luhya, Kenya	0.13810 29 / 210 Southern Han	0.19118 39 / 204 Tamil
	0.31765 54 / 170 Mende
	0.37963 82 / 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	ENST00000359271		NM_030777.3
Protein	ENSP00000352216			O95528

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
neutral	polymorphism (auto)	low impact	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.