OBSCN : c.1505A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1505A>G	p.Q502R (Gln > Arg)	substitution	missense	chr1:228402121 (forward strand)	0.65386413

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.65386413 (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	0.61222788 40385 / 65964	0.65773196 6380 / 9700	0.81308302 6973 / 8576	0.76711084 12665 / 16510	0.60318284 6974 / 11562	0.66162685 4376 / 6614	0.66331096 593 / 894	0.65386413 78346 / 119820
ESP	0.60654 5135 / 8466	0.66319 2861 / 4314						0.62566 7996 / 12780
1KG	0.64109 518 / 808	0.68154 901 / 1322	0.82440 831 / 1008	0.80368 786 / 978	0.64265 446 / 694	0.61616 122 / 198		0.71965 3604 / 5008

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

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

0.62088 113 / 182 British	0.65574 80 / 122 African-American	0.83333 155 / 186 Chinese Dai	0.81977 141 / 172 Bengali	0.65957 124 / 188 Colombian
0.63084 135 / 214 Iberian	0.71354 137 / 192 African-Caribbean	0.83495 172 / 206 Han, Beijing	0.76699 158 / 206 Gujarati Indian	0.61719 79 / 128 Mexican, LA
0.66355 142 / 214 Toscani	0.70707 140 / 198 Esan, Nigeria	0.80769 168 / 208 Japanese	0.88725 181 / 204 Indian Telugu	0.68824 117 / 170 Peruvian
0.64646 128 / 198 Utah Europeans	0.58407 132 / 226 Gambian	0.80808 160 / 198 Kinh, Vietnam	0.76562 147 / 192 Punjabi, Lahore	0.60577 126 / 208 Puerto Rican
	0.74747 148 / 198 Luhya, Kenya	0.83810 176 / 210 Southern Han	0.77941 159 / 204 Tamil
	0.62941 107 / 170 Mende
	0.72685 157 / 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	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
deleterious	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.