HSP90AA1 : c.1486+10C>T

HSP90AA1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1486+10C>Tsubstitutionsplice site chr14:102549873 (reverse strand)0.06538036

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06538036 (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
ExAC0.03838659
2561 / 66716		0.18376994
1866 / 10154		0.16150289
1397 / 8650		0.08153622
1346 / 16508		0.03559088
412 / 11576		0.04127608
273 / 6614		0.07079646
64 / 904		0.06538036
7919 / 121122
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.02970
24 / 808		 0.20651
273 / 1322		 0.14583
147 / 1008		 0.08180
80 / 978		 0.03746
26 / 694		 0.01515
3 / 198		 0.11042
553 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.01648
3 / 182
British
0.22131
27 / 122
African-American
0.10215
19 / 186
Chinese Dai
0.10465
18 / 172
Bengali
0.04255
8 / 188
Colombian
0.02804
6 / 214
Iberian
0.19792
38 / 192
African-Caribbean
0.15049
31 / 206
Han, Beijing
0.03883
8 / 206
Gujarati Indian
0.02344
3 / 128
Mexican, LA
0.04673
10 / 214
Toscani
0.19697
39 / 198
Esan, Nigeria
0.18269
38 / 208
Japanese
0.09804
20 / 204
Indian Telugu
0.02941
5 / 170
Peruvian
0.02525
5 / 198
Utah Europeans
0.21239
48 / 226
Gambian
0.12121
24 / 198
Kinh, Vietnam
0.08854
17 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.19192
38 / 198
Luhya, Kenya
0.16667
35 / 210
Southern Han
0.08333
17 / 204
Tamil
0.16471
28 / 170
Mende
0.25463
55 / 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 ENST00000216281 NM_005348.3
Protein ENSP00000216281 P07900



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.