SELP : c.992G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.992G>A	p.S331N (Ser > Asn)	substitution	missense	chr1:169580885 (reverse strand)	0.20580327

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.20580327 (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
ExAC	0.19626140 13082 / 66656	0.31935360 3320 / 10396	0.21304449 1839 / 8632	0.25045482 4130 / 16490	0.08952381 1034 / 11550	0.20462795 1353 / 6612	0.21412804 194 / 906	0.20580327 24952 / 121242
ESP	0.18814 1618 / 8600	0.30322 1336 / 4406						0.22713 2954 / 13006
1KG	0.17822 144 / 808	0.33888 448 / 1322	0.20238 204 / 1008	0.26585 260 / 978	0.14121 98 / 694	0.21717 43 / 198		0.23902 1197 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.17033 31 / 182 British	0.32787 40 / 122 African-American	0.22581 42 / 186 Chinese Dai	0.20930 36 / 172 Bengali	0.13298 25 / 188 Colombian
0.15888 34 / 214 Iberian	0.26562 51 / 192 African-Caribbean	0.18932 39 / 206 Han, Beijing	0.27184 56 / 206 Gujarati Indian	0.12500 16 / 128 Mexican, LA
0.16822 36 / 214 Toscani	0.37879 75 / 198 Esan, Nigeria	0.15865 33 / 208 Japanese	0.26961 55 / 204 Indian Telugu	0.04706 8 / 170 Peruvian
0.21717 43 / 198 Utah Europeans	0.41593 94 / 226 Gambian	0.21717 43 / 198 Kinh, Vietnam	0.27083 52 / 192 Punjabi, Lahore	0.23558 49 / 208 Puerto Rican
	0.24242 48 / 198 Luhya, Kenya	0.22381 47 / 210 Southern Han	0.29902 61 / 204 Tamil
	0.39412 67 / 170 Mende
	0.33796 73 / 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)	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.