Classification

Category 1

curation

CMH MAF

2 / 14969 samples (0.0134%)
2 het., 0 hom. (100%)
2 / 29938 total alleles (0.00668%)

Genes

gene: PMP22 synonym(s): CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110, PMP22, ENSG00000109099

NM_000304.3 [CDS] Reportable
hgvs_c: NM_000304.3:c.245T>C
reference AA: L
variant AA: P
reference codon: cTg
variant codon: cCg
cDNA pos: 483
CDS pos: 245
translation impact: non_synonymous
protein sequence: NP_000295.1
AA pos: 82
hgvs_p: NP_000295.1:p.Leu82Pro
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.679)

NM_001281455.1 [CDS]
hgvs_c: NM_001281455.1:c.245T>C
reference AA: L
variant AA: P
reference codon: cTg
variant codon: cCg
cDNA pos: 444
CDS pos: 245
translation impact: non_synonymous
protein sequence: NP_001268384.1
AA pos: 82
hgvs_p: NP_001268384.1:p.Leu82Pro
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.679)

NM_001281456.1 [CDS]
hgvs_c: NM_001281456.1:c.245T>C
reference AA: L
variant AA: P
reference codon: cTg
variant codon: cCg
cDNA pos: 479
CDS pos: 245
translation impact: non_synonymous
protein sequence: NP_001268385.1
AA pos: 82
hgvs_p: NP_001268385.1:p.Leu82Pro
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.679)

NM_153321.2 [CDS]
hgvs_c: NM_153321.2:c.245T>C
reference AA: L
variant AA: P
reference codon: cTg
variant codon: cCg
cDNA pos: 440
CDS pos: 245
translation impact: non_synonymous
protein sequence: NP_696996.1
AA pos: 82
hgvs_p: NP_696996.1:p.Leu82Pro
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.679)

NM_153322.2 [CDS]
hgvs_c: NM_153322.2:c.245T>C
reference AA: L
variant AA: P
reference codon: cTg
variant codon: cCg
cDNA pos: 362
CDS pos: 245
translation impact: non_synonymous
protein sequence: NP_696997.1
AA pos: 82
hgvs_p: NP_696997.1:p.Leu82Pro
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.679)

NR_104017.1 [exon]
hgvs_c: NR_104017.1:n.371T>C
cDNA pos: 371

NR_104018.1 [exon]
hgvs_c: NR_104018.1:n.271T>C
cDNA pos: 271

dbSNP

rs878853113

ClinVar

235779
clinvar_significance = Pathogenic_Likely_pathogenic
curated_classification = 1

Export Variant

Curation

Likely pathogenic