GAA : c.547-4C>G

GAA gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.547-4C>Gsubstitutionsplice site chr17:78079544 (forward strand)0.67586081

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.67586081 (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
ExAC0.74557702
49475 / 66358		0.54156196
5603 / 10346		0.52939809
4556 / 8606		0.67003877
11061 / 16508		0.45921372
5303 / 11548		0.76385104
5046 / 6606		0.72062084
650 / 902		0.67586081
81694 / 120874
ESP 0.73837
6350 / 8600		 0.54448
2399 / 4406		 0.67269
8749 / 13006
1KG
 0.75248
608 / 808		 0.52118
689 / 1322		 0.54365
548 / 1008		 0.66258
648 / 978		 0.54179
376 / 694		 0.75758
150 / 198		 0.60284
3019 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.75824
138 / 182
British
0.55738
68 / 122
African-American
0.43011
80 / 186
Chinese Dai
0.59884
103 / 172
Bengali
0.55319
104 / 188
Colombian
0.78037
167 / 214
Iberian
0.52083
100 / 192
African-Caribbean
0.59709
123 / 206
Han, Beijing
0.67476
139 / 206
Gujarati Indian
0.48438
62 / 128
Mexican, LA
0.77103
165 / 214
Toscani
0.47475
94 / 198
Esan, Nigeria
0.54808
114 / 208
Japanese
0.68137
139 / 204
Indian Telugu
0.44118
75 / 170
Peruvian
0.69697
138 / 198
Utah Europeans
0.57080
129 / 226
Gambian
0.57576
114 / 198
Kinh, Vietnam
0.68750
132 / 192
Punjabi, Lahore
0.64904
135 / 208
Puerto Rican
0.54040
107 / 198
Luhya, Kenya
0.55714
117 / 210
Southern Han
0.66176
135 / 204
Tamil
0.57647
98 / 170
Mende
0.43056
93 / 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 ENST00000302262 LRG_673t1NM_000152.3
Protein ENSP00000305692 LRG_673p1P10253



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.