LAMA4 : c.3328G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.3328G>A	p.G1110S (Gly > Ser)	substitution	missense	chr6:112457390 (reverse strand)	0.76914509

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.76914509 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM	LMM: Detected in 0 / 121 DCM patients.

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	0.70329472 46876 / 66652	0.86619854 9005 / 10396	0.85576476 7363 / 8604	0.86308009 14246 / 16506	0.88275563 10187 / 11540	0.73265677 4837 / 6602	0.78476821 711 / 906	0.76914509 93225 / 121206
ESP	0.69651 5990 / 8600	0.85837 3782 / 4406						0.75135 9772 / 13006
1KG	0.70050 566 / 808	0.88048 1164 / 1322	0.87302 880 / 1008	0.89264 873 / 978	0.82997 576 / 694	0.74242 147 / 198		0.83986 4206 / 5008

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

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

0.68681 125 / 182 British	0.83607 102 / 122 African-American	0.90860 169 / 186 Chinese Dai	0.88953 153 / 172 Bengali	0.77660 146 / 188 Colombian
0.75701 162 / 214 Iberian	0.86979 167 / 192 African-Caribbean	0.86893 179 / 206 Han, Beijing	0.87379 180 / 206 Gujarati Indian	0.88281 113 / 128 Mexican, LA
0.66355 142 / 214 Toscani	0.87879 174 / 198 Esan, Nigeria	0.87981 183 / 208 Japanese	0.92647 189 / 204 Indian Telugu	0.94706 161 / 170 Peruvian
0.69192 137 / 198 Utah Europeans	0.92478 209 / 226 Gambian	0.85354 169 / 198 Kinh, Vietnam	0.86458 166 / 192 Punjabi, Lahore	0.75000 156 / 208 Puerto Rican
	0.80303 159 / 198 Luhya, Kenya	0.85714 180 / 210 Southern Han	0.90686 185 / 204 Tamil
	0.91765 156 / 170 Mende
	0.91204 197 / 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	ENST00000424408	LRG_433t2	NM_002290.3
Protein	ENSP00000416470	LRG_433p2

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.