APOA4 : c.1099A>G

APOA4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1099A>Gp.T367A (Thr > Ala)substitutionmissense chr11:116691675 (reverse strand)0.00135273

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.00135273 (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
ExAC0.00180077
120 / 66638		0.00019242
2 / 10394		0.00011563
1 / 8648		0.00169656
28 / 16504		0.00077949
9 / 11546		0.00000000
0 / 6606		0.00444444
4 / 900		0.00135273
164 / 121236
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.00153
1 / 653		 0.00083
1 / 1200		 0.00000
0 / 1008		 0.00000
0 / 863		 0.00000
0 / 616		 0.00000
0 / 173		 0.00044
2 / 4513
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 146
British
0.00000
0 / 112
African-American
0.00000
0 / 186
Chinese Dai
0.00000
0 / 157
Bengali
0.00000
0 / 160
Colombian
0.00000
0 / 176
Iberian
0.00000
0 / 167
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.00000
0 / 175
Gujarati Indian
0.00000
0 / 111
Mexican, LA
0.00000
0 / 174
Toscani
0.00000
0 / 185
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00000
0 / 183
Indian Telugu
0.00000
0 / 163
Peruvian
0.00637
1 / 157
Utah Europeans
0.00000
0 / 201
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.00000
0 / 159
Punjabi, Lahore
0.00000
0 / 182
Puerto Rican
0.00532
1 / 188
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00000
0 / 189
Tamil
0.00000
0 / 156
Mende
0.00000
0 / 191
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 moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism low impact 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.