ABCC8 : c.4714G>A

ABCC8 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4714G>Ap.V1572I (Val > Ile)substitutionmissense chr11:17414570 (reverse strand)0.05620619

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05620619 (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
ExAC0.07094179
4726 / 66618		0.02837630
295 / 10396		0.00046275
4 / 8644		0.06929134
1144 / 16510		0.02826275
327 / 11570		0.03842663
254 / 6610		0.07206208
65 / 902		0.05620619
6815 / 121250
ESP 0.06592
566 / 8586		 0.03500
154 / 4400		 0.05544
720 / 12986
1KG
 0.06064
49 / 808		 0.02723
36 / 1322		 0.00099
1 / 1008		 0.04397
43 / 978		 0.03314
23 / 694		 0.02020
4 / 198		 0.03115
156 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.04396
8 / 182
British
0.02459
3 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.06395
11 / 172
Bengali
0.02660
5 / 188
Colombian
0.04206
9 / 214
Iberian
0.02604
5 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.04369
9 / 206
Gujarati Indian
0.03906
5 / 128
Mexican, LA
0.09346
20 / 214
Toscani
0.01515
3 / 198
Esan, Nigeria
0.00481
1 / 208
Japanese
0.03431
7 / 204
Indian Telugu
0.01176
2 / 170
Peruvian
0.06061
12 / 198
Utah Europeans
0.04425
10 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.02083
4 / 192
Punjabi, Lahore
0.05288
11 / 208
Puerto Rican
0.03535
7 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.05882
12 / 204
Tamil
0.02941
5 / 170
Mende
0.01389
3 / 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 ENST00000389817 NM_000352.3
Protein ENSP00000374467 Q09428

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
25% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral disease-causing neutral 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.