SELP : c.625G>A

SELP gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.625G>Ap.V209M (Val > Met)substitutionmissense chr1:169582317 (reverse strand)0.05950034

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05950034 (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
ExAC0.06079923
4044 / 66514		0.04199576
436 / 10382		0.00801208
69 / 8612		0.11150191
1807 / 16206		0.02173157
250 / 11504		0.08027870
530 / 6602		0.05210643
47 / 902		0.05950034
7183 / 120722
ESP 0.05419
466 / 8600		 0.04063
179 / 4406		 0.04959
645 / 13006
1KG
 0.04827
39 / 808		 0.04539
60 / 1322		 0.00794
8 / 1008		 0.12883
126 / 978		 0.05043
35 / 694		 0.07576
15 / 198		 0.05651
283 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06044
11 / 182
British
0.04918
6 / 122
African-American
0.00538
1 / 186
Chinese Dai
0.08140
14 / 172
Bengali
0.03723
7 / 188
Colombian
0.03738
8 / 214
Iberian
0.02604
5 / 192
African-Caribbean
0.00485
1 / 206
Han, Beijing
0.17961
37 / 206
Gujarati Indian
0.02344
3 / 128
Mexican, LA
0.03738
8 / 214
Toscani
0.07071
14 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.13725
28 / 204
Indian Telugu
0.01176
2 / 170
Peruvian
0.06061
12 / 198
Utah Europeans
0.04867
11 / 226
Gambian
0.02020
4 / 198
Kinh, Vietnam
0.07812
15 / 192
Punjabi, Lahore
0.11058
23 / 208
Puerto Rican
0.00505
1 / 198
Luhya, Kenya
0.00952
2 / 210
Southern Han
0.15686
32 / 204
Tamil
0.05294
9 / 170
Mende
0.06481
14 / 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
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative possibly damaging benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism low 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.