OBSCN : c.13925C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.13925C>G	p.S4642C (Ser > Cys)	substitution	missense	chr1:228505668 (forward strand)	0.69402762

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.69402762 (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	0.70268487 46848 / 66670	0.82528033 8096 / 9810	0.72933644 6265 / 8590	0.49588079 8186 / 16508	0.74801038 8647 / 11560	0.77308627 5090 / 6584	0.64777778 583 / 900	0.69402762 83715 / 120622
ESP	0.70156 5924 / 8444	0.83255 3525 / 4234						0.74531 9449 / 12678
1KG	0.64975 525 / 808	0.86611 1145 / 1322	0.74802 754 / 1008	0.43865 429 / 978	0.71470 496 / 694	0.77273 153 / 198		0.69928 3502 / 5008

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

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

0.69231 126 / 182 British	0.83607 102 / 122 African-American	0.76344 142 / 186 Chinese Dai	0.44186 76 / 172 Bengali	0.61170 115 / 188 Colombian
0.65421 140 / 214 Iberian	0.82812 159 / 192 African-Caribbean	0.66990 138 / 206 Han, Beijing	0.43204 89 / 206 Gujarati Indian	0.72656 93 / 128 Mexican, LA
0.62617 134 / 214 Toscani	0.87879 174 / 198 Esan, Nigeria	0.79808 166 / 208 Japanese	0.38725 79 / 204 Indian Telugu	0.74706 127 / 170 Peruvian
0.63131 125 / 198 Utah Europeans	0.89381 202 / 226 Gambian	0.76768 152 / 198 Kinh, Vietnam	0.50000 96 / 192 Punjabi, Lahore	0.77404 161 / 208 Puerto Rican
	0.85859 170 / 198 Luhya, Kenya	0.74286 156 / 210 Southern Han	0.43627 89 / 204 Tamil
	0.91176 155 / 170 Mende
	0.84722 183 / 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	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.