ABCG5 : c.1810C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1810C>G	p.Q604E (Gln > Glu)	substitution	missense	chr2:44040401 (reverse strand)	0.20967633

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.20967633 (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	0.16978404 11038 / 65012	0.31358268 3186 / 10160	0.11722768 1003 / 8556	0.27005114 4330 / 16034	0.37701577 4255 / 11286	0.12960123 845 / 6520	0.20316027 180 / 886	0.20967633 24837 / 118454
ESP	0.16070 1382 / 8600	0.30708 1353 / 4406						0.21029 2735 / 13006
1KG	0.16955 137 / 808	0.32980 436 / 1322	0.12103 122 / 1008	0.27607 270 / 978	0.30115 209 / 694	0.14141 28 / 198		0.24002 1202 / 5008

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

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

0.19231 35 / 182 British	0.33607 41 / 122 African-American	0.15054 28 / 186 Chinese Dai	0.28488 49 / 172 Bengali	0.24468 46 / 188 Colombian
0.13084 28 / 214 Iberian	0.30208 58 / 192 African-Caribbean	0.11165 23 / 206 Han, Beijing	0.30583 63 / 206 Gujarati Indian	0.32812 42 / 128 Mexican, LA
0.18692 40 / 214 Toscani	0.34848 69 / 198 Esan, Nigeria	0.10096 21 / 208 Japanese	0.28431 58 / 204 Indian Telugu	0.40588 69 / 170 Peruvian
0.17172 34 / 198 Utah Europeans	0.28761 65 / 226 Gambian	0.10606 21 / 198 Kinh, Vietnam	0.25000 48 / 192 Punjabi, Lahore	0.25000 52 / 208 Puerto Rican
	0.36364 72 / 198 Luhya, Kenya	0.13810 29 / 210 Southern Han	0.25490 52 / 204 Tamil
	0.36471 62 / 170 Mende
	0.31944 69 / 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 12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	low 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.