An
Autosomal dominant
mode(s) within the
Cardiovascular disorders
category
Conflicting classifications of pathogenicity
3
Likely pathogenic
14
Pathogenic
5
Pathogenic/Likely pathogenic
4
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000138.5(FBN1):c.8552_8553del (p.Lys2851fs) | Deletion | Chr15:48411053 - 48411054 | Likely pathogenic | Frameshift variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000138.5(FBN1):c.2956del (p.Ala986fs) | Deletion | Chr15:48489977 | Likely pathogenic | Frameshift variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000138.5(FBN1):c.3464-1G>C | Single nucleotide variant | Chr15:48487201 | Pathogenic | Splice acceptor variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe) | Single nucleotide variant | Chr15:48487317 | Pathogenic | Missense variant | rs140599 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr) | Single nucleotide variant | Chr15:48510121 | Likely pathogenic | Missense variant | rs112644647 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.247+9A>G | Single nucleotide variant | Chr15:48613001 | Conflicting classifications of pathogenicity | Intron variant | rs1298547542 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp) | Single nucleotide variant | Chr15:48420689 | Likely pathogenic | Missense variant | rs2141220600 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe) | Single nucleotide variant | Chr15:48444585 | Likely pathogenic | Missense variant | rs1085307531 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser) | Single nucleotide variant | Chr15:48444612 | Likely pathogenic | Missense variant | rs1597531796 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn) | Single nucleotide variant | Chr15:48448768 | Pathogenic/Likely pathogenic | Missense variant | rs193922216 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe) | Single nucleotide variant | Chr15:48448818 | Likely pathogenic | Missense variant | rs2141252159 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp) | Single nucleotide variant | Chr15:48468503 | Likely pathogenic | Missense variant | rs2043341481 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr) | Single nucleotide variant | Chr15:48485451 | Likely pathogenic | Missense variant | rs1057522908 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) | Single nucleotide variant | Chr15:48483890 | Conflicting classifications of pathogenicity | Missense variant | rs772890884 |
.Molecular Lab, Department of Haematology, Christian Medical College |
| NM_000138.5(FBN1):c.5917+1G>T | Single nucleotide variant | Chr15:48445375 | Pathogenic/Likely pathogenic | Splice donor variant | rs363808 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser) | Single nucleotide variant | Chr15:48441771 | Likely pathogenic | Missense variant | rs363804 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu) | Single nucleotide variant | Chr15:48432907 | Likely pathogenic | Missense variant | rs1566894783 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys) | Single nucleotide variant | Chr15:48437845 | Likely pathogenic | Missense variant | rs1555395263 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr) | Single nucleotide variant | Chr15:48515392 | Pathogenic/Likely pathogenic | Missense variant | rs1555400372 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.5917+6T>C | Single nucleotide variant | Chr15:48445370 | Pathogenic/Likely pathogenic | Intron variant | rs1555395742 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser) | Single nucleotide variant | Chr15:48444574 | Likely pathogenic | Missense variant | rs1057519320 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) | Deletion | Chr15:48427731 - 48427732 | Pathogenic | Frameshift variant | rs794728319 |
.Lifecell International Pvt. Ltd |
| NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) | Single nucleotide variant | Chr15:48503927 | Uncertain significance | Missense variant | rs794728181 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) | Single nucleotide variant | Chr15:48463210 | Pathogenic | Missense variant | rs387906622 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) | Single nucleotide variant | Chr15:48483931 | Pathogenic | Missense variant | rs137854471 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) | Single nucleotide variant | Chr5:128349391 | Conflicting classifications of pathogenicity | Missense variant | rs1057519321 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) | Single nucleotide variant | Chr15:48520676 | Likely pathogenic | Missense variant | rs1597583989 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution