Multiple endocrine neoplasia, type 1
An Autosomal dominant mode(s) within the Cancer disorders category
Benign
1
Benign/Likely benign
2
Conflicting classifications of pathogenicity
2
Likely pathogenic
3
Pathogenic
3
Pathogenic/Likely pathogenic
2
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000051.4(ATM):c.7381C>A (p.Arg2461Ser) | Single nucleotide variant | Chr11:108330287 | Uncertain significance | Missense variant|intron variant | rs201314561 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_024529.5(CDC73):c.70G>T (p.Glu24Ter) | Single nucleotide variant | Chr1:193122270 | Likely pathogenic | Nonsense | rs2527281270 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg) | Single nucleotide variant | Chr11:64809682 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2136178143 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.137A>T (p.His46Leu) | Single nucleotide variant | Chr11:64809973 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2136192730 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.784-129T>A | Single nucleotide variant | Chr11:64807348 | Benign/Likely benign | Intron variant | rs536461697 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.725C>T (p.Ala242Val) | Single nucleotide variant | Chr11:64807610 | Pathogenic/Likely pathogenic | Missense variant | rs2136141530 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro) | Single nucleotide variant | Chr11:64807185 | Conflicting classifications of pathogenicity | Missense variant | rs1592647281 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.913-42G>C | Single nucleotide variant | Chr11:64806410 | Benign | Intron variant | rs529037188 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) | Single nucleotide variant | Chr11:64805172 | Benign/Likely benign | Synonymous variant | rs577268289 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.446-2A>C | Single nucleotide variant | Chr11:64808101 | Pathogenic | Splice acceptor variant | rs886042035 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.1174del (p.Glu392fs) | Deletion | Chr11:64805646 | Pathogenic/Likely pathogenic | Frameshift variant | rs386134247 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) | Single nucleotide variant | Chr11:64807577 | Conflicting classifications of pathogenicity | Missense variant | rs386134259 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) | Single nucleotide variant | Chr11:64807997 | Pathogenic | Nonsense | rs794728650 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) | Single nucleotide variant | Chr11:64805132 | Pathogenic | Missense variant | rs104894264 | |
| NM_000455.5(STK11):c.749C>T (p.Thr250Met) | Single nucleotide variant | Chr19:1221227 | Uncertain significance | Missense variant | rs876661238 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution