COL11A1 : c.3968C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.3968C>T	p.P1323L (Pro > Leu)	substitution	missense	chr1:103379918 (reverse strand)	0.59155329

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.59155329 (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	0.61135597 40226 / 65798	0.12636707 1271 / 10058	0.68921114 5941 / 8620	0.59331713 9766 / 16460	0.76173791 8696 / 11416	0.67027439 4397 / 6560	0.64253898 577 / 898	0.59155329 70874 / 119810
ESP	0.61163 5260 / 8600	0.13958 615 / 4406						0.45172 5875 / 13006
1KG	0.61139 494 / 808	0.04917 65 / 1322	0.70337 709 / 1008	0.58589 573 / 978	0.75504 524 / 694	0.61616 122 / 198		0.49661 2487 / 5008

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

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

0.57692 105 / 182 British	0.17213 21 / 122 African-American	0.75806 141 / 186 Chinese Dai	0.56977 98 / 172 Bengali	0.75000 141 / 188 Colombian
0.65888 141 / 214 Iberian	0.12500 24 / 192 African-Caribbean	0.69417 143 / 206 Han, Beijing	0.66990 138 / 206 Gujarati Indian	0.75781 97 / 128 Mexican, LA
0.60280 129 / 214 Toscani	0.02020 4 / 198 Esan, Nigeria	0.70673 147 / 208 Japanese	0.50490 103 / 204 Indian Telugu	0.90588 154 / 170 Peruvian
0.60101 119 / 198 Utah Europeans	0.03097 7 / 226 Gambian	0.63636 126 / 198 Kinh, Vietnam	0.65104 125 / 192 Punjabi, Lahore	0.63462 132 / 208 Puerto Rican
	0.02525 5 / 198 Luhya, Kenya	0.72381 152 / 210 Southern Han	0.53431 109 / 204 Tamil
	0.00000 0 / 170 Mende
	0.01852 4 / 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	ENST00000370096		NM_001854.3
Protein	ENSP00000359114			P12107

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
deleterious	polymorphism (auto)	medium impact	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.