GATA6 : c.1620+7A>G

GATA6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1620+7A>Gsubstitutionsplice site chr18:19763011 (forward strand)0.08029222

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.08029222 (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
ExAC0.01424114
922 / 64742		0.63395277
6550 / 10332		0.05770142
487 / 8440		0.03116851
502 / 16106		0.07690966
882 / 11468		0.01813472
119 / 6562		0.06278027
56 / 892		0.08029222
9518 / 118542
ESP 0.01302
112 / 8600		 0.61439
2707 / 4406		 0.21675
2819 / 13006
1KG
 0.01980
16 / 808		 0.72542
959 / 1322		 0.04464
45 / 1008		 0.02863
28 / 978		 0.10231
71 / 694		 0.01515
3 / 198		 0.22404
1122 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.01648
3 / 182
British
0.63934
78 / 122
African-American
0.06452
12 / 186
Chinese Dai
0.06977
12 / 172
Bengali
0.06915
13 / 188
Colombian
0.02804
6 / 214
Iberian
0.66146
127 / 192
African-Caribbean
0.03398
7 / 206
Han, Beijing
0.00971
2 / 206
Gujarati Indian
0.11719
15 / 128
Mexican, LA
0.02336
5 / 214
Toscani
0.67677
134 / 198
Esan, Nigeria
0.06731
14 / 208
Japanese
0.02451
5 / 204
Indian Telugu
0.09412
16 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.75664
171 / 226
Gambian
0.02020
4 / 198
Kinh, Vietnam
0.02083
4 / 192
Punjabi, Lahore
0.12981
27 / 208
Puerto Rican
0.76768
152 / 198
Luhya, Kenya
0.03810
8 / 210
Southern Han
0.02451
5 / 204
Tamil
0.72941
124 / 170
Mende
0.80093
173 / 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 ENST00000269216 NM_005257.3
Protein ENSP00000269216 Q92908



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.