DSP : c.2631G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2631G>A	p.R877R	substitution	splice site	chr6:7576527 (forward strand)	0.77179183

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.77179183 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM	OMGL: Detected in 0 / 304 DCM patients. LMM: Detected in 0 / 123 DCM patients.
ARVC	OMGL: Detected in 0 / 352 ARVC patients sequenced at OMGL.

DCM

OMGL: Detected in 0 / 304 DCM patients.

LMM: Detected in 0 / 123 DCM patients.

ARVC

OMGL: Detected in 0 / 352 ARVC patients sequenced at OMGL.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases

Database	European	African	East Asian	South Asian	American	Finnish	Other	Total
ExAC	0.79976907 53335 / 66688	0.64474701 6677 / 10356	0.80457909 6958 / 8648	0.74606347 12319 / 16512	0.77174477 8926 / 11566	0.71171308 4703 / 6608	0.75938190 688 / 906	0.77179183 93606 / 121284
ESP	0.80244 6901 / 8600	0.64208 2829 / 4406						0.74812 9730 / 13006
1KG	0.82302 665 / 808	0.60817 804 / 1322	0.80556 812 / 1008	0.73006 714 / 978	0.78818 547 / 694	0.71212 141 / 198		0.73542 3683 / 5008

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

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

0.84066 153 / 182 British	0.64754 79 / 122 African-American	0.82796 154 / 186 Chinese Dai	0.77907 134 / 172 Bengali	0.82979 156 / 188 Colombian
0.85514 183 / 214 Iberian	0.55208 106 / 192 African-Caribbean	0.79612 164 / 206 Han, Beijing	0.70874 146 / 206 Gujarati Indian	0.75781 97 / 128 Mexican, LA
0.79439 170 / 214 Toscani	0.60101 119 / 198 Esan, Nigeria	0.84615 176 / 208 Japanese	0.76471 156 / 204 Indian Telugu	0.80588 137 / 170 Peruvian
0.80303 159 / 198 Utah Europeans	0.68142 154 / 226 Gambian	0.78283 155 / 198 Kinh, Vietnam	0.69271 133 / 192 Punjabi, Lahore	0.75481 157 / 208 Puerto Rican
	0.63636 126 / 198 Luhya, Kenya	0.77619 163 / 210 Southern Han	0.71078 145 / 204 Tamil
	0.61765 105 / 170 Mende
	0.53241 115 / 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	ENST00000379802	LRG_423t1	NM_004415.2
Protein	ENSP00000369129	LRG_423p1		P15924

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.