OBSCN : c.15805C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.15805C>G	p.L5269V (Leu > Val)	substitution	missense	chr1:228520973 (forward strand)	0.39379347

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.39379347 (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	0.46513370 8071 / 17352	0.40385723 1403 / 3474	0.26448598 566 / 2140	0.26265823 2075 / 7900	0.38049303 710 / 1866	0.51047904 341 / 668	0.33884298 82 / 242	0.39379347 13248 / 33642
ESP	0.41785 3469 / 8302	0.34662 1383 / 3990						0.39473 4852 / 12292
1KG	0.42203 341 / 808	0.41831 553 / 1322	0.24901 251 / 1008	0.18814 184 / 978	0.38473 267 / 694	0.41414 82 / 198		0.33506 1678 / 5008

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

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

0.46154 84 / 182 British	0.41803 51 / 122 African-American	0.28495 53 / 186 Chinese Dai	0.14535 25 / 172 Bengali	0.27660 52 / 188 Colombian
0.42056 90 / 214 Iberian	0.39062 75 / 192 African-Caribbean	0.17476 36 / 206 Han, Beijing	0.22816 47 / 206 Gujarati Indian	0.33594 43 / 128 Mexican, LA
0.40187 86 / 214 Toscani	0.44444 88 / 198 Esan, Nigeria	0.32212 67 / 208 Japanese	0.11275 23 / 204 Indian Telugu	0.42353 72 / 170 Peruvian
0.40909 81 / 198 Utah Europeans	0.42035 95 / 226 Gambian	0.24747 49 / 198 Kinh, Vietnam	0.21875 42 / 192 Punjabi, Lahore	0.48077 100 / 208 Puerto Rican
	0.35354 70 / 198 Luhya, Kenya	0.21905 46 / 210 Southern Han	0.23039 47 / 204 Tamil
	0.45294 77 / 170 Mende
	0.44907 97 / 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	ENST00000284548	LRG_412t1	NM_052843.2
Protein	ENSP00000284548	LRG_412p1

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)	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.