ABCG5 : c.148C>T

ABCG5 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.148C>Tp.R50C (Arg > Cys)substitutionmissense chr2:44065090 (reverse strand)0.06434157

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06434157 (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
ExAC0.06651562
4433 / 66646		0.07754630
804 / 10368		0.01400139
121 / 8642		0.03403998
562 / 16510		0.10977509
1269 / 11560		0.08399030
554 / 6596		0.06291391
57 / 906		0.06434157
7800 / 121228
ESP 0.06372
548 / 8600		 0.07240
319 / 4406		 0.06666
867 / 13006
1KG
 0.06807
55 / 808		 0.10287
136 / 1322		 0.01389
14 / 1008		 0.04192
41 / 978		 0.09942
69 / 694		 0.10606
21 / 198		 0.06709
336 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.07143
13 / 182
British
0.09016
11 / 122
African-American
0.01613
3 / 186
Chinese Dai
0.04070
7 / 172
Bengali
0.06915
13 / 188
Colombian
0.05140
11 / 214
Iberian
0.11979
23 / 192
African-Caribbean
0.01456
3 / 206
Han, Beijing
0.02913
6 / 206
Gujarati Indian
0.16406
21 / 128
Mexican, LA
0.07009
15 / 214
Toscani
0.11616
23 / 198
Esan, Nigeria
0.00481
1 / 208
Japanese
0.05392
11 / 204
Indian Telugu
0.12353
21 / 170
Peruvian
0.08081
16 / 198
Utah Europeans
0.07522
17 / 226
Gambian
0.02020
4 / 198
Kinh, Vietnam
0.03646
7 / 192
Punjabi, Lahore
0.06731
14 / 208
Puerto Rican
0.13636
27 / 198
Luhya, Kenya
0.01429
3 / 210
Southern Han
0.04902
10 / 204
Tamil
0.10588
18 / 170
Mende
0.07870
17 / 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 ENST00000260645 NM_022436.2
Protein ENSP00000260645 Q9H222

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
87.5% of algorithms have predicted that this variant will adversely affect protein function
damaging radical probably damaging probably damaging
LRT MutationTaster MutationAssessor FATHMM
neutral disease-causing medium impact damaging


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.