SLMAP : c.828+11C>A

SLMAP gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.828+11C>Asubstitutionsplice site chr3:57846577 (forward strand)0.24865826

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.24865826 (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
ExAC0.23005941
11618 / 50500		0.21333874
1577 / 7392		0.44504281
3223 / 7242		0.15980884
1973 / 12346		0.37993102
3525 / 9278		0.18799250
1002 / 5330		0.22079772
155 / 702		0.24865826
23073 / 92790
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.20668
167 / 808		 0.16263
215 / 1322		 0.43155
435 / 1008		 0.13599
133 / 978		 0.22911
159 / 694		 0.18182
36 / 198		 0.22863
1145 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.21978
40 / 182
British
0.17213
21 / 122
African-American
0.40860
76 / 186
Chinese Dai
0.13953
24 / 172
Bengali
0.16489
31 / 188
Colombian
0.17290
37 / 214
Iberian
0.17188
33 / 192
African-Caribbean
0.46117
95 / 206
Han, Beijing
0.09709
20 / 206
Gujarati Indian
0.27344
35 / 128
Mexican, LA
0.25701
55 / 214
Toscani
0.16162
32 / 198
Esan, Nigeria
0.34135
71 / 208
Japanese
0.13235
27 / 204
Indian Telugu
0.34706
59 / 170
Peruvian
0.17677
35 / 198
Utah Europeans
0.19469
44 / 226
Gambian
0.42929
85 / 198
Kinh, Vietnam
0.14062
27 / 192
Punjabi, Lahore
0.16346
34 / 208
Puerto Rican
0.14646
29 / 198
Luhya, Kenya
0.51429
108 / 210
Southern Han
0.17157
35 / 204
Tamil
0.13529
23 / 170
Mende
0.15278
33 / 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 ENST00000295952 NM_007159.2
Protein ENSP00000295952



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.