BAG3 : c.1220C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1220C>T	p.P407L (Pro > Leu)	substitution	missense	chr10:121436286 (forward strand)	0.11405564

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.11405564 (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	0.08438926 5621 / 66608	0.16489977 1711 / 10376	0.26906141 2322 / 8630	0.07856797 1297 / 16508	0.17888639 2069 / 11566	0.10299456 681 / 6612	0.13606195 123 / 904	0.11405564 13824 / 121204
ESP	0.08767 754 / 8600	0.17045 751 / 4406						0.11572 1505 / 13006
1KG	0.09653 78 / 808	0.16641 220 / 1322	0.25298 255 / 1008	0.08793 86 / 978	0.17435 121 / 694	0.09596 19 / 198		0.15555 779 / 5008

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

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

0.08242 15 / 182 British	0.18033 22 / 122 African-American	0.27419 51 / 186 Chinese Dai	0.13953 24 / 172 Bengali	0.14362 27 / 188 Colombian
0.10748 23 / 214 Iberian	0.10938 21 / 192 African-Caribbean	0.21845 45 / 206 Han, Beijing	0.06311 13 / 206 Gujarati Indian	0.13281 17 / 128 Mexican, LA
0.10748 23 / 214 Toscani	0.16162 32 / 198 Esan, Nigeria	0.24519 51 / 208 Japanese	0.08824 18 / 204 Indian Telugu	0.27059 46 / 170 Peruvian
0.08586 17 / 198 Utah Europeans	0.19469 44 / 226 Gambian	0.27273 54 / 198 Kinh, Vietnam	0.07292 14 / 192 Punjabi, Lahore	0.14904 31 / 208 Puerto Rican
	0.12121 24 / 198 Luhya, Kenya	0.25714 54 / 210 Southern Han	0.08333 17 / 204 Tamil
	0.17647 30 / 170 Mende
	0.21759 47 / 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	ENST00000369085		NM_004281.3
Protein	ENSP00000358081			O95817

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	low impact	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.