SLCO1B1 : c.388A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.388A>G	p.N130D (Asn > Asp)	substitution	missense	chr12:21329738 (forward strand)	0.47948557

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.47948557 (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	0.41069065 27306 / 66488	0.76795741 7933 / 10330	0.74994220 6487 / 8650	0.47945455 7911 / 16500	0.43027093 4955 / 11516	0.44942459 2968 / 6604	0.50222222 452 / 900	0.47948557 58012 / 120988
ESP	0.40373 3460 / 8570	0.76512 3365 / 4398						0.52629 6825 / 12968
1KG	0.39356 318 / 808	0.81770 1081 / 1322	0.76190 768 / 1008	0.54703 535 / 978	0.47262 328 / 694	0.43939 87 / 198		0.62240 3117 / 5008

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

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

0.35714 65 / 182 British	0.74590 91 / 122 African-American	0.80645 150 / 186 Chinese Dai	0.56395 97 / 172 Bengali	0.47872 90 / 188 Colombian
0.41589 89 / 214 Iberian	0.78646 151 / 192 African-Caribbean	0.77670 160 / 206 Han, Beijing	0.55340 114 / 206 Gujarati Indian	0.37500 48 / 128 Mexican, LA
0.39252 84 / 214 Toscani	0.88384 175 / 198 Esan, Nigeria	0.65865 137 / 208 Japanese	0.59804 122 / 204 Indian Telugu	0.47059 80 / 170 Peruvian
0.40404 80 / 198 Utah Europeans	0.81416 184 / 226 Gambian	0.77778 154 / 198 Kinh, Vietnam	0.45833 88 / 192 Punjabi, Lahore	0.52885 110 / 208 Puerto Rican
	0.84343 167 / 198 Luhya, Kenya	0.79524 167 / 210 Southern Han	0.55882 114 / 204 Tamil
	0.80588 137 / 170 Mende
	0.81481 176 / 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 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	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.