OBSCN : c.6318T>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.6318T>G	p.D2106E (Asp > Glu)	substitution	missense	chr1:228464248 (forward strand)	0.69298515

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.69298515 (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	0.69976780 45205 / 64600	0.81903655 7753 / 9466	0.72796389 6128 / 8418	0.51719303 8483 / 16402	0.74516015 8468 / 11364	0.75554499 4769 / 6312	0.65721040 556 / 846	0.69298515 81362 / 117408
ESP	0.69648 5934 / 8520	0.82078 3554 / 4330						0.73837 9488 / 12850
1KG	0.63985 517 / 808	0.84947 1123 / 1322	0.75000 756 / 1008	0.46012 450 / 978	0.70029 486 / 694	0.76263 151 / 198		0.69549 3483 / 5008

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

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

0.69231 126 / 182 British	0.81148 99 / 122 African-American	0.76344 142 / 186 Chinese Dai	0.45349 78 / 172 Bengali	0.60106 113 / 188 Colombian
0.64953 139 / 214 Iberian	0.79688 153 / 192 African-Caribbean	0.67961 140 / 206 Han, Beijing	0.45631 94 / 206 Gujarati Indian	0.71094 91 / 128 Mexican, LA
0.58411 125 / 214 Toscani	0.84848 168 / 198 Esan, Nigeria	0.78846 164 / 208 Japanese	0.40686 83 / 204 Indian Telugu	0.73529 125 / 170 Peruvian
0.64141 127 / 198 Utah Europeans	0.89381 202 / 226 Gambian	0.78283 155 / 198 Kinh, Vietnam	0.51562 99 / 192 Punjabi, Lahore	0.75481 157 / 208 Puerto Rican
	0.85859 170 / 198 Luhya, Kenya	0.73810 155 / 210 Southern Han	0.47059 96 / 204 Tamil
	0.90000 153 / 170 Mende
	0.82407 178 / 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	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.