OBSCN : c.12115G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.12115G>A	p.G4039R (Gly > Arg)	substitution	missense	chr1:228494790 (forward strand)	0.40908409

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.40908409 (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	0.49761783 33005 / 66326	0.10199260 993 / 9736	0.20604011 1767 / 8576	0.32706539 5392 / 16486	0.33507671 3844 / 11472	0.57087946 3713 / 6504	0.41797753 372 / 890	0.40908409 49086 / 119990
ESP	0.49393 4232 / 8568	0.11696 513 / 4386						0.36630 4745 / 12954
1KG	0.46535 376 / 808	0.06051 80 / 1322	0.24901 251 / 1008	0.27096 265 / 978	0.37752 262 / 694	0.56061 111 / 198		0.26857 1345 / 5008

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

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

0.49451 90 / 182 British	0.18033 22 / 122 African-American	0.29032 54 / 186 Chinese Dai	0.21512 37 / 172 Bengali	0.28723 54 / 188 Colombian
0.47664 102 / 214 Iberian	0.10417 20 / 192 African-Caribbean	0.17476 36 / 206 Han, Beijing	0.31068 64 / 206 Gujarati Indian	0.35938 46 / 128 Mexican, LA
0.45327 97 / 214 Toscani	0.04040 8 / 198 Esan, Nigeria	0.32212 67 / 208 Japanese	0.23529 48 / 204 Indian Telugu	0.43529 74 / 170 Peruvian
0.43939 87 / 198 Utah Europeans	0.03982 9 / 226 Gambian	0.24747 49 / 198 Kinh, Vietnam	0.28646 55 / 192 Punjabi, Lahore	0.42308 88 / 208 Puerto Rican
	0.02020 4 / 198 Luhya, Kenya	0.21429 45 / 210 Southern Han	0.29902 61 / 204 Tamil
	0.03529 6 / 170 Mende
	0.05093 11 / 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 radical		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.