ABCA1 : c.2311G>C

ABCA1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2311G>Cp.V771L (Val > Leu)substitutionmissense chr9:107589255 (reverse strand)0.00042864

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.00042864 (ExAC mean allelic frequency), it is unlikely to be pathogenic.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.00000000
0 / 66680		0.00461538
48 / 10400		0.00000000
0 / 8646		0.00000000
0 / 16510		0.00034608
4 / 11558		0.00000000
0 / 6614		0.00000000
0 / 906		0.00042864
52 / 121314
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.00000
0 / 982		 0.00772
9 / 1166		 0.00000
0 / 973		 0.00000
0 / 917		 0.00000
0 / 599		 0.00000
0 / 194		 0.00194
9 / 4637
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 178
British
0.01852
2 / 108
African-American
0.00000
0 / 175
Chinese Dai
0.00000
0 / 164
Bengali
0.00000
0 / 156
Colombian
0.00000
0 / 206
Iberian
0.00000
0 / 175
African-Caribbean
0.00000
0 / 202
Han, Beijing
0.00000
0 / 189
Gujarati Indian
0.00000
0 / 114
Mexican, LA
0.00000
0 / 209
Toscani
0.01734
3 / 173
Esan, Nigeria
0.00000
0 / 200
Japanese
0.00000
0 / 193
Indian Telugu
0.00000
0 / 139
Peruvian
0.00000
0 / 195
Utah Europeans
0.00000
0 / 192
Gambian
0.00000
0 / 189
Kinh, Vietnam
0.00000
0 / 180
Punjabi, Lahore
0.00000
0 / 190
Puerto Rican
0.00585
1 / 171
Luhya, Kenya
0.00000
0 / 207
Southern Han
0.00000
0 / 191
Tamil
0.00000
0 / 154
Mende
0.01554
3 / 193
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
37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
deleterious 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.