OBSCN : c.8158G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.8158G>A	p.V2720M (Val > Met)	substitution	missense	chr1:228468458 (forward strand)	0.30041062

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.30041062 (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	0.31150371 19307 / 61980	0.40284914 3450 / 8564	0.20600962 1714 / 8320	0.22828233 3700 / 16208	0.28631560 3197 / 11166	0.38703646 2484 / 6418	0.28966346 241 / 832	0.30041062 34093 / 113488
ESP	0.27847 2308 / 8288	0.33235 1350 / 4062						0.29619 3658 / 12350
1KG	0.27723 224 / 808	0.46899 620 / 1322	0.24702 249 / 1008	0.20245 198 / 978	0.33429 232 / 694	0.37374 74 / 198		0.31889 1597 / 5008

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

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

0.29121 53 / 182 British	0.40984 50 / 122 African-American	0.29032 54 / 186 Chinese Dai	0.17442 30 / 172 Bengali	0.25000 47 / 188 Colombian
0.30374 65 / 214 Iberian	0.40104 77 / 192 African-Caribbean	0.17961 37 / 206 Han, Beijing	0.20874 43 / 206 Gujarati Indian	0.28125 36 / 128 Mexican, LA
0.25234 54 / 214 Toscani	0.51515 102 / 198 Esan, Nigeria	0.32212 67 / 208 Japanese	0.20588 42 / 204 Indian Telugu	0.40588 69 / 170 Peruvian
0.26263 52 / 198 Utah Europeans	0.50885 115 / 226 Gambian	0.24747 49 / 198 Kinh, Vietnam	0.19792 38 / 192 Punjabi, Lahore	0.38462 80 / 208 Puerto Rican
	0.37374 74 / 198 Luhya, Kenya	0.20000 42 / 210 Southern Han	0.22059 45 / 204 Tamil
	0.52353 89 / 170 Mende
	0.52315 113 / 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	conservative	probably damaging
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.