LTBP2 : c.3262G>A

LTBP2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3262G>Ap.G1088S (Gly > Ser)substitutionmissense chr14:74976452 (reverse strand)0.03352084

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03352084 (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
ExAC0.00451572
301 / 66656		0.00115540
12 / 10386		0.19070253
1645 / 8626		0.11636782
1921 / 16508		0.00311526
36 / 11556		0.01726227
114 / 6604		0.03880266
35 / 902		0.03352084
4064 / 121238
ESP 0.00442
38 / 8600		 0.00091
4 / 4406		 0.00323
42 / 13006
1KG
 0.00248
2 / 808		 0.00076
1 / 1322		 0.15179
153 / 1008		 0.14417
141 / 978		 0.00288
2 / 694		 0.01515
3 / 198		 0.06030
302 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00549
1 / 182
British
0.00000
0 / 122
African-American
0.11828
22 / 186
Chinese Dai
0.13953
24 / 172
Bengali
0.00532
1 / 188
Colombian
0.00000
0 / 214
Iberian
0.00000
0 / 192
African-Caribbean
0.23301
48 / 206
Han, Beijing
0.11650
24 / 206
Gujarati Indian
0.00000
0 / 128
Mexican, LA
0.00467
1 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.13462
28 / 208
Japanese
0.16176
33 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.00442
1 / 226
Gambian
0.09596
19 / 198
Kinh, Vietnam
0.15625
30 / 192
Punjabi, Lahore
0.00000
0 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.17143
36 / 210
Southern Han
0.14706
30 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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
50% of algorithms have predicted that this variant will adversely affect protein function
damaging moderately conservative possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) low 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.