SERPINE1 : c.43G>A

SERPINE1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.43G>Ap.A15T (Ala > Thr)substitutionmissense chr7:100771717 (forward strand)0.09639170

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.09639170 (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
ExAC0.11245311
7495 / 66650		0.01943429
202 / 10394		0.09010887
778 / 8634		0.11088905
1831 / 16512		0.07139153
826 / 11570		0.07201210
476 / 6610		0.09050773
82 / 906		0.09639170
11690 / 121276
ESP 0.11721
1008 / 8600		 0.02292
101 / 4406		 0.08527
1109 / 13006
1KG
 0.10149
82 / 808		 0.00227
3 / 1322		 0.09722
98 / 1008		 0.10429
102 / 978		 0.08069
56 / 694		 0.08586
17 / 198		 0.07149
358 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.12088
22 / 182
British
0.01639
2 / 122
African-American
0.09677
18 / 186
Chinese Dai
0.08140
14 / 172
Bengali
0.07979
15 / 188
Colombian
0.10280
22 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.12136
25 / 206
Han, Beijing
0.09223
19 / 206
Gujarati Indian
0.08594
11 / 128
Mexican, LA
0.07944
17 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.08654
18 / 208
Japanese
0.12745
26 / 204
Indian Telugu
0.06471
11 / 170
Peruvian
0.10606
21 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.07576
15 / 198
Kinh, Vietnam
0.07292
14 / 192
Punjabi, Lahore
0.09135
19 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.10476
22 / 210
Southern Han
0.14216
29 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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 ENST00000223095 NM_000602.3
Protein ENSP00000223095 P05121

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) 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.