SLCO1B1 : c.521T>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.521T>C	p.V174A (Val > Ala)	substitution	missense	chr12:21331549 (forward strand)	0.12943359

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.12943359 (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	0.16032755 10690 / 66676	0.02835993 295 / 10402	0.12627315 1091 / 8640	0.05029084 830 / 16504	0.10647507 1230 / 11552	0.21361573 1412 / 6610	0.16666667 151 / 906	0.12943359 15699 / 121290
ESP	0.15535 1336 / 8600	0.03609 159 / 4406						0.11495 1495 / 13006
1KG	0.15594 126 / 808	0.01362 18 / 1322	0.12302 124 / 1008	0.04294 42 / 978	0.13401 93 / 694	0.18182 36 / 198		0.08766 439 / 5008

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

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

0.14286 26 / 182 British	0.06557 8 / 122 African-American	0.13978 26 / 186 Chinese Dai	0.05233 9 / 172 Bengali	0.18085 34 / 188 Colombian
0.11682 25 / 214 Iberian	0.02083 4 / 192 African-Caribbean	0.13592 28 / 206 Han, Beijing	0.01942 4 / 206 Gujarati Indian	0.07812 10 / 128 Mexican, LA
0.21495 46 / 214 Toscani	0.00000 0 / 198 Esan, Nigeria	0.12019 25 / 208 Japanese	0.06373 13 / 204 Indian Telugu	0.14118 24 / 170 Peruvian
0.14646 29 / 198 Utah Europeans	0.00000 0 / 226 Gambian	0.10101 20 / 198 Kinh, Vietnam	0.03646 7 / 192 Punjabi, Lahore	0.12019 25 / 208 Puerto Rican
	0.02020 4 / 198 Luhya, Kenya	0.11905 25 / 210 Southern Han	0.04412 9 / 204 Tamil
	0.00000 0 / 170 Mende
	0.00926 2 / 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	ENST00000256958		NM_006446.4
Protein	ENSP00000256958			Q9Y6L6

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 50% of algorithms have predicted that this variant will adversely affect protein function
damaging	moderately conservative	probably damaging	probably damaging
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	medium 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.