OBSCN : c.2722G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2722G>A	p.A908T (Ala > Thr)	substitution	missense	chr1:228412228 (forward strand)	0.34707232

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34707232 (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	0.38562869 25615 / 66424	0.36193112 3531 / 9756	0.18816954 1616 / 8588	0.23338991 3850 / 16496	0.39767401 4582 / 11522	0.34082625 2244 / 6584	0.33816964 303 / 896	0.34707232 41741 / 120266
ESP	0.00000 0 / 8600	0.00000 0 / 4400						0.00000 0 / 13000
1KG	0.35767 289 / 808	0.33510 443 / 1322	0.17560 177 / 1008	0.19632 192 / 978	0.35591 247 / 694	0.37879 75 / 198		0.28415 1423 / 5008

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

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

0.38462 70 / 182 British	0.35246 43 / 122 African-American	0.16667 31 / 186 Chinese Dai	0.18023 31 / 172 Bengali	0.33511 63 / 188 Colombian
0.35981 77 / 214 Iberian	0.32292 62 / 192 African-Caribbean	0.15534 32 / 206 Han, Beijing	0.23301 48 / 206 Gujarati Indian	0.39062 50 / 128 Mexican, LA
0.34112 73 / 214 Toscani	0.33333 66 / 198 Esan, Nigeria	0.19712 41 / 208 Japanese	0.10784 22 / 204 Indian Telugu	0.31176 53 / 170 Peruvian
0.34848 69 / 198 Utah Europeans	0.42478 96 / 226 Gambian	0.19192 38 / 198 Kinh, Vietnam	0.23958 46 / 192 Punjabi, Lahore	0.38942 81 / 208 Puerto Rican
	0.26263 52 / 198 Luhya, Kenya	0.16667 35 / 210 Southern Han	0.22059 45 / 204 Tamil
	0.37059 63 / 170 Mende
	0.28241 61 / 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 12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately conservative
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	medium 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.