Autosomal recessive limb-girdle muscular dystrophy type 2A
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
3
Pathogenic
6
Pathogenic/Likely pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000070.3(CAPN3):c.2439+1G>T | Single nucleotide variant | Chr15:42411346 | Likely pathogenic | Splice donor variant | rs867531606 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys) | Single nucleotide variant | Chr15:42410929 | Likely pathogenic | Missense variant | rs2141225644 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2217C>G (p.Ser739=) | Single nucleotide variant | Chr15:42410620 | Pathogenic | Synonymous variant | rs148851444 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) | Single nucleotide variant | Chr15:42386184 | Conflicting classifications of pathogenicity | Missense variant | rs946415346 | |
| NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del) | Deletion | Chr15:42410446 - 42411992 | Likely pathogenic | Stop lost|splice acceptor variant|splice donor variant|inframe_deletion |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
|
| NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) | Single nucleotide variant | Chr15:42402878 | Pathogenic/Likely pathogenic | Missense variant | rs142004418 |
.Lifecell International Pvt. Ltd |
| NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) | Single nucleotide variant | Chr15:42390016 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs528417986 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) | Single nucleotide variant | Chr15:42410925 | Pathogenic/Likely pathogenic | Missense variant | rs868791726 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.2051-1G>T | Single nucleotide variant | Chr15:42409930 | Pathogenic | Splice acceptor variant | rs886042108 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) | Single nucleotide variant | Chr15:42399640 | Pathogenic | Missense variant | rs776043976 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000070.3(CAPN3):c.802-9G>A | Single nucleotide variant | Chr15:42389944 | Pathogenic | Intron variant | rs761211705 |
.Lifecell International Pvt. Ltd |
| NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) | Single nucleotide variant | Chr15:42399641 | Pathogenic | Missense variant | rs863224956 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) | Single nucleotide variant | Chr15:42410958 | Pathogenic | Missense variant | rs778768583 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution