OBSCN : c.9898G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.9898G>A	p.A3300T (Ala > Thr)	substitution	missense	chr1:228475848 (forward strand)	0.29234375

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.29234375 (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	0.30407674 20288 / 66720	0.34990829 3434 / 9814	0.20520567 1766 / 8606	0.22650194 3740 / 16512	0.28162807 3259 / 11572	0.38630178 2555 / 6614	0.28333333 255 / 900	0.29234375 35297 / 120738
ESP	0.29735 2490 / 8374	0.32220 1321 / 4100						0.30551 3811 / 12474
1KG	0.27351 221 / 808	0.41528 549 / 1322	0.24702 249 / 1008	0.20245 198 / 978	0.32421 225 / 694	0.37374 74 / 198		0.30272 1516 / 5008

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

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

0.28022 51 / 182 British	0.39344 48 / 122 African-American	0.29032 54 / 186 Chinese Dai	0.17442 30 / 172 Bengali	0.24468 46 / 188 Colombian
0.30374 65 / 214 Iberian	0.36979 71 / 192 African-Caribbean	0.17476 36 / 206 Han, Beijing	0.20874 43 / 206 Gujarati Indian	0.27344 35 / 128 Mexican, LA
0.24766 53 / 214 Toscani	0.44444 88 / 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	0.42478 96 / 226 Gambian	0.24747 49 / 198 Kinh, Vietnam	0.19792 38 / 192 Punjabi, Lahore	0.36058 75 / 208 Puerto Rican
	0.35354 70 / 198 Luhya, Kenya	0.20476 43 / 210 Southern Han	0.22059 45 / 204 Tamil
	0.45882 78 / 170 Mende
	0.45370 98 / 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 25% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately conservative		possibly damaging
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.