LSM14A : c.746A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.746A>G	p.N249S (Asn > Ser)	substitution	missense	chr19:34706531 (forward strand)	0.07743374

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07743374 (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	0.03921392 2610 / 66558	0.23614597 2446 / 10358	0.02105020 182 / 8646	0.07053615 1163 / 16488	0.22817048 2634 / 11544	0.04278803 283 / 6614	0.06651885 60 / 902	0.07743374 9378 / 121110
ESP	0.03291 283 / 8600	0.21380 942 / 4406						0.09419 1225 / 13006
1KG	0.02104 17 / 808	0.25265 334 / 1322	0.02679 27 / 1008	0.08487 83 / 978	0.18588 129 / 694	0.04040 8 / 198		0.11941 598 / 5008

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

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

0.01099 2 / 182 British	0.20492 25 / 122 African-American	0.04301 8 / 186 Chinese Dai	0.04070 7 / 172 Bengali	0.16489 31 / 188 Colombian
0.02804 6 / 214 Iberian	0.25000 48 / 192 African-Caribbean	0.01456 3 / 206 Han, Beijing	0.07282 15 / 206 Gujarati Indian	0.14844 19 / 128 Mexican, LA
0.00935 2 / 214 Toscani	0.24747 49 / 198 Esan, Nigeria	0.00481 1 / 208 Japanese	0.11765 24 / 204 Indian Telugu	0.29412 50 / 170 Peruvian
0.03535 7 / 198 Utah Europeans	0.25664 58 / 226 Gambian	0.04040 8 / 198 Kinh, Vietnam	0.06771 13 / 192 Punjabi, Lahore	0.13942 29 / 208 Puerto Rican
	0.29293 58 / 198 Luhya, Kenya	0.03333 7 / 210 Southern Han	0.11765 24 / 204 Tamil
	0.25294 43 / 170 Mende
	0.24537 53 / 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	ENST00000544216		NM_015578.2
Protein	ENSP00000446271

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	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.