SELP : c.2266A>C

SELP gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2266A>Cp.T756P (Thr > Pro)substitutionmissense chr1:169563951 (reverse strand)0.08208191

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.08208191 (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
ExAC0.10909992
7263 / 66572		0.01942308
202 / 10400		0.00034714
3 / 8642		0.03668890
605 / 16490		0.08647469
991 / 11460		0.12302791
811 / 6592		0.06843267
62 / 906		0.08208191
9937 / 121062
ESP 0.10628
914 / 8600		 0.02247
99 / 4406		 0.07789
1013 / 13006
1KG
 0.08416
68 / 808		 0.00454
6 / 1322		 0.00198
2 / 1008		 0.02658
26 / 978		 0.08213
57 / 694		 0.10606
21 / 198		 0.03594
180 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.09890
18 / 182
British
0.02459
3 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.04070
7 / 172
Bengali
0.08511
16 / 188
Colombian
0.08879
19 / 214
Iberian
0.01562
3 / 192
African-Caribbean
0.00971
2 / 206
Han, Beijing
0.01942
4 / 206
Gujarati Indian
0.05469
7 / 128
Mexican, LA
0.05607
12 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00980
2 / 204
Indian Telugu
0.08235
14 / 170
Peruvian
0.09596
19 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.06250
12 / 192
Punjabi, Lahore
0.09615
20 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00490
1 / 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 ENST00000263686 NM_003005.3
Protein ENSP00000263686

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
37.5% of algorithms have predicted that this variant will adversely affect protein function
damaging conservative possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism neutral 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.