APOA4 : c.440G>A

APOA4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.440G>Ap.S147N (Ser > Asn)substitutionmissense chr11:116692334 (reverse strand)0.80886559

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.80886559 (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
ExAC0.86232016
56701 / 65754		0.88613668
9051 / 10214		0.67587106
5703 / 8438		0.66646304
10910 / 16370		0.76033421
8645 / 11370		0.76673800
5016 / 6542		0.78285078
703 / 898		0.80886559
96729 / 119586
ESP 0.87011
7476 / 8592		 0.88074
3877 / 4402		 0.87371
11353 / 12994
1KG
 0.84158
680 / 808		 0.89410
1182 / 1322		 0.63790
643 / 1008		 0.63497
621 / 978		 0.75648
525 / 694		 0.76263
151 / 198		 0.75919
3802 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.83516
152 / 182
British
0.86885
106 / 122
African-American
0.57527
107 / 186
Chinese Dai
0.62209
107 / 172
Bengali
0.77128
145 / 188
Colombian
0.81308
174 / 214
Iberian
0.85417
164 / 192
African-Caribbean
0.64563
133 / 206
Han, Beijing
0.64078
132 / 206
Gujarati Indian
0.78906
101 / 128
Mexican, LA
0.83178
178 / 214
Toscani
0.89394
177 / 198
Esan, Nigeria
0.61538
128 / 208
Japanese
0.61765
126 / 204
Indian Telugu
0.62353
106 / 170
Peruvian
0.88889
176 / 198
Utah Europeans
0.90265
204 / 226
Gambian
0.70707
140 / 198
Kinh, Vietnam
0.70833
136 / 192
Punjabi, Lahore
0.83173
173 / 208
Puerto Rican
0.90909
180 / 198
Luhya, Kenya
0.64286
135 / 210
Southern Han
0.58824
120 / 204
Tamil
0.90588
154 / 170
Mende
0.91204
197 / 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 ENST00000357780 NM_000482.3
Protein ENSP00000350425

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) tolerated


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.