OBSCN : c.4595C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.4595C>T	p.A1532V (Ala > Val)	substitution	missense	chr1:228451826 (forward strand)	0.29440789

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.29440789 (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	0.29217928 19427 / 66490	0.25051314 2441 / 9744	0.40419580 3468 / 8580	0.26108553 4310 / 16508	0.27375801 3163 / 11554	0.35893559 2374 / 6614	0.28970917 259 / 894	0.29440789 35442 / 120384
ESP	0.28096 2373 / 8446	0.24186 1025 / 4238						0.26790 3398 / 12684
1KG	0.26485 214 / 808	0.27610 365 / 1322	0.42262 426 / 1008	0.25767 252 / 978	0.29827 207 / 694	0.35354 70 / 198		0.30631 1534 / 5008

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

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

0.28022 51 / 182 British	0.24590 30 / 122 African-American	0.43011 80 / 186 Chinese Dai	0.26744 46 / 172 Bengali	0.22340 42 / 188 Colombian
0.28037 60 / 214 Iberian	0.27083 52 / 192 African-Caribbean	0.37864 78 / 206 Han, Beijing	0.24272 50 / 206 Gujarati Indian	0.25000 32 / 128 Mexican, LA
0.23832 51 / 214 Toscani	0.29293 58 / 198 Esan, Nigeria	0.44231 92 / 208 Japanese	0.27941 57 / 204 Indian Telugu	0.38824 66 / 170 Peruvian
0.26263 52 / 198 Utah Europeans	0.24336 55 / 226 Gambian	0.42424 84 / 198 Kinh, Vietnam	0.25521 49 / 192 Punjabi, Lahore	0.32212 67 / 208 Puerto Rican
	0.24747 49 / 198 Luhya, Kenya	0.43810 92 / 210 Southern Han	0.24510 50 / 204 Tamil
	0.29412 50 / 170 Mende
	0.32870 71 / 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	moderately 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.