SELP : c.1918G>T

SELP gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1918G>Tp.V640L (Val > Leu)substitutionmissense chr1:169565346 (reverse strand)0.12724425

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.12724425 (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
ExAC0.11122770
7420 / 66710		0.56696171
5893 / 10394		0.00034698
3 / 8646		0.02580567
426 / 16508		0.09089332
1048 / 11530		0.08194738
542 / 6614		0.11453744
104 / 908		0.12724425
15436 / 121310
ESP 0.11663
1003 / 8600		 0.55039
2425 / 4406		 0.26357
3428 / 13006
1KG
 0.12500
101 / 808		 0.65885
871 / 1322		 0.00198
2 / 1008		 0.01636
16 / 978		 0.12680
88 / 694		 0.09596
19 / 198		 0.21905
1097 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.10440
19 / 182
British
0.54098
66 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.01163
2 / 172
Bengali
0.15426
29 / 188
Colombian
0.15888
34 / 214
Iberian
0.63021
121 / 192
African-Caribbean
0.00971
2 / 206
Han, Beijing
0.00485
1 / 206
Gujarati Indian
0.10156
13 / 128
Mexican, LA
0.11682
25 / 214
Toscani
0.70707
140 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.01471
3 / 204
Indian Telugu
0.04118
7 / 170
Peruvian
0.11616
23 / 198
Utah Europeans
0.69027
156 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.03125
6 / 192
Punjabi, Lahore
0.18750
39 / 208
Puerto Rican
0.62626
124 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.01961
4 / 204
Tamil
0.68824
117 / 170
Mende
0.68056
147 / 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 ENST00000263686 NM_003005.3
Protein ENSP00000263686

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) 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.