SLC10A2 : c.511T>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.511T>G	p.S171A (Ser > Ala)	substitution	missense	chr13:103705044 (reverse strand)	0.86098836

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.86098836 (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	0.88378403 58959 / 66712	0.92994426 9677 / 10406	0.73022501 6296 / 8622	0.85613865 14128 / 16502	0.75815406 8740 / 11528	0.88403387 5847 / 6614	0.86343612 784 / 908	0.86098836 104431 / 121292
ESP	0.87267 7505 / 8600	0.93100 4102 / 4406						0.89243 11607 / 13006
1KG	0.86262 697 / 808	0.92890 1228 / 1322	0.72520 731 / 1008	0.84765 829 / 978	0.78242 543 / 694	0.90909 180 / 198		0.84026 4208 / 5008

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

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

0.86264 157 / 182 British	0.94262 115 / 122 African-American	0.72581 135 / 186 Chinese Dai	0.82558 142 / 172 Bengali	0.85106 160 / 188 Colombian
0.90187 193 / 214 Iberian	0.90625 174 / 192 African-Caribbean	0.68447 141 / 206 Han, Beijing	0.89320 184 / 206 Gujarati Indian	0.74219 95 / 128 Mexican, LA
0.84112 180 / 214 Toscani	0.91414 181 / 198 Esan, Nigeria	0.74519 155 / 208 Japanese	0.84314 172 / 204 Indian Telugu	0.65882 112 / 170 Peruvian
0.84343 167 / 198 Utah Europeans	0.92920 210 / 226 Gambian	0.70202 139 / 198 Kinh, Vietnam	0.82812 159 / 192 Punjabi, Lahore	0.84615 176 / 208 Puerto Rican
	0.97475 193 / 198 Luhya, Kenya	0.76667 161 / 210 Southern Han	0.84314 172 / 204 Tamil
	0.91765 156 / 170 Mende
	0.92130 199 / 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	ENST00000245312		NM_000452.2
Protein	ENSP00000245312			Q12908

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)	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.