SLMAP : c.1341C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1341C>T	p.D447D	substitution	splice site	chr3:57882601 (forward strand)	0.29594207

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.29594207 (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	0.26693155 17736 / 66444	0.15633423 1624 / 10388	0.48842325 4219 / 8638	0.35398451 5668 / 16012	0.36240914 4188 / 11556	0.29891140 1977 / 6614	0.29379157 265 / 902	0.29594207 35677 / 120554
ESP	0.24198 2081 / 8600	0.15002 661 / 4406						0.21083 2742 / 13006
1KG	0.25248 204 / 808	0.12179 161 / 1322	0.47520 479 / 1008	0.36299 355 / 978	0.34294 238 / 694	0.31818 63 / 198		0.29952 1500 / 5008

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

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

0.21978 40 / 182 British	0.19672 24 / 122 African-American	0.48387 90 / 186 Chinese Dai	0.44186 76 / 172 Bengali	0.36702 69 / 188 Colombian
0.22430 48 / 214 Iberian	0.12500 24 / 192 African-Caribbean	0.49029 101 / 206 Han, Beijing	0.37379 77 / 206 Gujarati Indian	0.32031 41 / 128 Mexican, LA
0.28037 60 / 214 Toscani	0.14646 29 / 198 Esan, Nigeria	0.57692 120 / 208 Japanese	0.30392 62 / 204 Indian Telugu	0.45294 77 / 170 Peruvian
0.28283 56 / 198 Utah Europeans	0.07965 18 / 226 Gambian	0.40909 81 / 198 Kinh, Vietnam	0.34375 66 / 192 Punjabi, Lahore	0.24519 51 / 208 Puerto Rican
	0.06566 13 / 198 Luhya, Kenya	0.41429 87 / 210 Southern Han	0.36275 74 / 204 Tamil
	0.10588 18 / 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	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.