LTBP2 : c.956C>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.956C>A	p.P319Q (Pro > Gln)	substitution	missense	chr14:75022271 (reverse strand)	0.06556527

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06556527 (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	0.05320596 3520 / 66158	0.15338491 1586 / 10340	0.09373550 808 / 8620	0.05409964 834 / 15416	0.05672778 656 / 11564	0.05748865 380 / 6610	0.06458797 58 / 898	0.06556527 7842 / 119606
ESP	0.05384 463 / 8600	0.15956 703 / 4406						0.08965 1166 / 13006
1KG	0.04703 38 / 808	0.15582 206 / 1322	0.09524 96 / 1008	0.04703 46 / 978	0.06484 45 / 694	0.04040 8 / 198		0.08766 439 / 5008

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

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

0.02747 5 / 182 British	0.11475 14 / 122 African-American	0.09140 17 / 186 Chinese Dai	0.05814 10 / 172 Bengali	0.04787 9 / 188 Colombian
0.05607 12 / 214 Iberian	0.17708 34 / 192 African-Caribbean	0.10680 22 / 206 Han, Beijing	0.02913 6 / 206 Gujarati Indian	0.01562 2 / 128 Mexican, LA
0.06075 13 / 214 Toscani	0.19192 38 / 198 Esan, Nigeria	0.09615 20 / 208 Japanese	0.06863 14 / 204 Indian Telugu	0.12353 21 / 170 Peruvian
0.04040 8 / 198 Utah Europeans	0.12832 29 / 226 Gambian	0.09596 19 / 198 Kinh, Vietnam	0.02083 4 / 192 Punjabi, Lahore	0.06250 13 / 208 Puerto Rican
	0.15152 30 / 198 Luhya, Kenya	0.08571 18 / 210 Southern Han	0.05882 12 / 204 Tamil
	0.15294 26 / 170 Mende
	0.16204 35 / 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	ENST00000261978		NM_000428.2
Protein	ENSP00000261978			Q14767

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 37.5% of algorithms have predicted that this variant will adversely affect protein function
damaging	moderately conservative	possibly damaging	possibly damaging
LRT	MutationTaster	MutationAssessor	FATHMM
unknown	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.