TMEM43 : c.536T>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.536T>C	p.M179T (Met > Thr)	substitution	missense	chr3:14175262 (forward strand)	0.37236584

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.37236584 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM	OMGL: Detected in 0 / 304 DCM patients. LMM: Detected in 0 / 123 DCM patients.
ARVC	OMGL: Detected in 0 / 94 ARVC patients sequenced at OMGL.

DCM

OMGL: Detected in 0 / 304 DCM patients.

LMM: Detected in 0 / 123 DCM patients.

ARVC

OMGL: Detected in 0 / 94 ARVC patients sequenced at OMGL.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases

Database	European	African	East Asian	South Asian	American	Finnish	Other	Total
ExAC	0.28643352 19116 / 66738	0.41773977 4347 / 10406	0.67354032 5814 / 8632	0.40909641 6755 / 16512	0.58111610 6727 / 11576	0.31614757 2091 / 6614	0.38546256 350 / 908	0.37236584 45200 / 121386
ESP	0.29546 2541 / 8600	0.40558 1787 / 4406						0.33277 4328 / 13006
1KG	0.25990 210 / 808	0.45083 596 / 1322	0.67560 681 / 1008	0.43763 428 / 978	0.50576 351 / 694	0.27273 54 / 198		0.46326 2320 / 5008

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

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

0.25824 47 / 182 British	0.47541 58 / 122 African-American	0.72043 134 / 186 Chinese Dai	0.51744 89 / 172 Bengali	0.45745 86 / 188 Colombian
0.26636 57 / 214 Iberian	0.41146 79 / 192 African-Caribbean	0.67476 139 / 206 Han, Beijing	0.38835 80 / 206 Gujarati Indian	0.54688 70 / 128 Mexican, LA
0.25234 54 / 214 Toscani	0.44444 88 / 198 Esan, Nigeria	0.57212 119 / 208 Japanese	0.48039 98 / 204 Indian Telugu	0.64706 110 / 170 Peruvian
0.26263 52 / 198 Utah Europeans	0.42035 95 / 226 Gambian	0.70202 139 / 198 Kinh, Vietnam	0.35417 68 / 192 Punjabi, Lahore	0.40865 85 / 208 Puerto Rican
	0.58081 115 / 198 Luhya, Kenya	0.71429 150 / 210 Southern Han	0.45588 93 / 204 Tamil
	0.39412 67 / 170 Mende
	0.43519 94 / 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	ENST00000306077	LRG_435t1	NM_024334.2
Protein	ENSP00000303992	LRG_435p1		Q9BTV4

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