ABCA1 : c.2311G>A

ABCA1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2311G>Ap.V771M (Val > Met)substitutionmissense chr9:107589255 (reverse strand)0.05118948

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05118948 (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
ExAC0.03419316
2280 / 66680		0.09721154
1011 / 10400		0.01954661
169 / 8646		0.06474864
1069 / 16510		0.13246236
1531 / 11558		0.01496825
99 / 6614		0.05629139
51 / 906		0.05118948
6210 / 121314
ESP 0.03628
312 / 8600		 0.09147
403 / 4406		 0.05498
715 / 13006
1KG
 0.02475
20 / 808		 0.11881
156 / 1313		 0.03472
35 / 1008		 0.06237
61 / 978		 0.13689
95 / 694		 0.02020
4 / 198		 0.07421
371 / 4999
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02198
4 / 182
British
0.11667
14 / 120
African-American
0.05914
11 / 186
Chinese Dai
0.04651
8 / 172
Bengali
0.17021
32 / 188
Colombian
0.03738
8 / 214
Iberian
0.08854
17 / 192
African-Caribbean
0.01942
4 / 206
Han, Beijing
0.08252
17 / 206
Gujarati Indian
0.10938
14 / 128
Mexican, LA
0.02336
5 / 214
Toscani
0.12821
25 / 195
Esan, Nigeria
0.03846
8 / 208
Japanese
0.05392
11 / 204
Indian Telugu
0.18235
31 / 170
Peruvian
0.01515
3 / 198
Utah Europeans
0.15044
34 / 226
Gambian
0.04545
9 / 198
Kinh, Vietnam
0.06250
12 / 192
Punjabi, Lahore
0.08654
18 / 208
Puerto Rican
0.13706
27 / 197
Luhya, Kenya
0.01429
3 / 210
Southern Han
0.06373
13 / 204
Tamil
0.09412
16 / 170
Mende
0.10798
23 / 213
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 ENST00000374736 NM_005502.3
Protein ENSP00000363868 O95477

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
deleterious polymorphism (auto) 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.