GAA : c.2338G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2338G>A	p.V780I (Val > Ile)	substitution	missense	chr17:78091405 (forward strand)	0.72960984

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.72960984 (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	0.76450564 50306 / 65802	0.70097847 7164 / 10220	0.62121565 5335 / 8588	0.81681609 13484 / 16508	0.47122552 5437 / 11538	0.79624584 5260 / 6606	0.76174497 681 / 894	0.72960984 87667 / 120156
ESP	0.74988 6446 / 8596	0.70064 3087 / 4406						0.73320 9533 / 13002
1KG	0.75866 613 / 808	0.71558 946 / 1322	0.64980 655 / 1008	0.83231 814 / 978	0.55187 383 / 694	0.77778 154 / 198		0.71186 3565 / 5008

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

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

0.78022 142 / 182 British	0.72951 89 / 122 African-American	0.54301 101 / 186 Chinese Dai	0.77907 134 / 172 Bengali	0.58511 110 / 188 Colombian
0.78037 167 / 214 Iberian	0.67188 129 / 192 African-Caribbean	0.65049 134 / 206 Han, Beijing	0.83010 171 / 206 Gujarati Indian	0.46875 60 / 128 Mexican, LA
0.77103 165 / 214 Toscani	0.71212 141 / 198 Esan, Nigeria	0.69231 144 / 208 Japanese	0.86765 177 / 204 Indian Telugu	0.42353 72 / 170 Peruvian
0.70202 139 / 198 Utah Europeans	0.71681 162 / 226 Gambian	0.68182 135 / 198 Kinh, Vietnam	0.82812 159 / 192 Punjabi, Lahore	0.67788 141 / 208 Puerto Rican
	0.77778 154 / 198 Luhya, Kenya	0.67143 141 / 210 Southern Han	0.84804 173 / 204 Tamil
	0.72353 123 / 170 Mende
	0.68519 148 / 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	ENST00000302262	LRG_673t1	NM_000152.3
Protein	ENSP00000305692	LRG_673p1		P10253

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
neutral	polymorphism (auto)	neutral	damaging

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.