SCARB1 : c.1129-7G>A

SCARB1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1129-7G>Asubstitutionsplice site chr12:125279821 (reverse strand)0.01059430

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.01059430 (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
ExAC0.00083928
56 / 66724		0.11247837
1170 / 10402		0.00000000
0 / 8654		0.00012115
2 / 16508		0.00466482
54 / 11576		0.00000000
0 / 6614		0.00440529
4 / 908		0.01059430
1286 / 121386
ESP 0.00128
11 / 8600		 0.11643
513 / 4406		 0.04029
524 / 13006
1KG
 0.00000
0 / 1006		 0.11346
150 / 1322		 0.00000
0 / 1008		 0.00000
0 / 978		 0.01585
11 / 694		 0.00000
0 / 198		 0.03215
161 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.07377
9 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.00000
0 / 172
Bengali
0.01064
2 / 188
Colombian
0.00000
0 / 214
Iberian
0.10938
21 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.00000
0 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.00000
0 / 214
Toscani
0.15152
30 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00000
0 / 204
Indian Telugu
0.01176
2 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.10177
23 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.00000
0 / 192
Punjabi, Lahore
0.02885
6 / 208
Puerto Rican
0.08081
16 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00000
0 / 204
Tamil
0.10588
18 / 170
Mende
0.15278
33 / 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 ENST00000261693 NM_005505.4
Protein ENSP00000261693



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.