OBSCN : c.17671C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.17671C>G	p.Q5891E (Gln > Glu)	substitution	missense	chr1:228528563 (forward strand)	0.54681826

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.54681826 (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	0.55774170 24322 / 43608	0.63673331 3758 / 5902	0.61018748 3450 / 5654	0.43785452 5249 / 11988	0.48000000 3192 / 6650	0.66908213 2216 / 3312	0.51094891 280 / 548	0.54681826 42467 / 77662
ESP	0.52033 4299 / 8262	0.60803 2409 / 3962						0.54876 6708 / 12224
1KG	0.49752 402 / 808	0.66793 883 / 1322	0.59425 599 / 1008	0.37526 367 / 978	0.46542 323 / 694	0.62626 124 / 198		0.53874 2698 / 5008

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

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

0.52747 96 / 182 British	0.62295 76 / 122 African-American	0.60753 113 / 186 Chinese Dai	0.35465 61 / 172 Bengali	0.36702 69 / 188 Colombian
0.50000 107 / 214 Iberian	0.59375 114 / 192 African-Caribbean	0.53883 111 / 206 Han, Beijing	0.35922 74 / 206 Gujarati Indian	0.44531 57 / 128 Mexican, LA
0.48131 103 / 214 Toscani	0.67677 134 / 198 Esan, Nigeria	0.62500 130 / 208 Japanese	0.37745 77 / 204 Indian Telugu	0.48235 82 / 170 Peruvian
0.48485 96 / 198 Utah Europeans	0.66372 150 / 226 Gambian	0.59596 118 / 198 Kinh, Vietnam	0.40625 78 / 192 Punjabi, Lahore	0.55288 115 / 208 Puerto Rican
	0.67172 133 / 198 Luhya, Kenya	0.60476 127 / 210 Southern Han	0.37745 77 / 204 Tamil
	0.72353 123 / 170 Mende
	0.70833 153 / 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.