AGL : c.3199C>T

AGL gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3199C>Tp.P1067S (Pro > Ser)substitutionmissense chr1:100358103 (forward strand)0.13612795

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13612795 (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
ExAC0.15388079
10254 / 66636		0.12158260
1263 / 10388		0.02892180
250 / 8644		0.14527273
2397 / 16500		0.09044875
1036 / 11454		0.17491649
1152 / 6586		0.14900662
135 / 906		0.13612795
16487 / 121114
ESP 0.14616
1257 / 8600		 0.12642
557 / 4406		 0.13947
1814 / 13006
1KG
 0.15099
122 / 808		 0.12027
159 / 1322		 0.02778
28 / 1008		 0.14826
145 / 978		 0.09510
66 / 694		 0.17172
34 / 198		 0.11062
554 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.14835
27 / 182
British
0.09836
12 / 122
African-American
0.04301
8 / 186
Chinese Dai
0.18605
32 / 172
Bengali
0.09043
17 / 188
Colombian
0.16355
35 / 214
Iberian
0.10938
21 / 192
African-Caribbean
0.01456
3 / 206
Han, Beijing
0.12621
26 / 206
Gujarati Indian
0.12500
16 / 128
Mexican, LA
0.18224
39 / 214
Toscani
0.14646
29 / 198
Esan, Nigeria
0.03846
8 / 208
Japanese
0.15196
31 / 204
Indian Telugu
0.07647
13 / 170
Peruvian
0.10606
21 / 198
Utah Europeans
0.06637
15 / 226
Gambian
0.03030
6 / 198
Kinh, Vietnam
0.14583
28 / 192
Punjabi, Lahore
0.09615
20 / 208
Puerto Rican
0.11616
23 / 198
Luhya, Kenya
0.01429
3 / 210
Southern Han
0.13725
28 / 204
Tamil
0.10000
17 / 170
Mende
0.19444
42 / 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 ENST00000361915 NM_000642.2
Protein ENSP00000355106 P35573

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
25% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
deleterious polymorphism (auto) medium 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.