NM_017739.3(POMGNT1):c.1539+1G>ARat Genome Database

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Variant : CV71221 (NM_017739.3(POMGNT1):c.1539+1G>A) Homo sapiens

Symbol: CV71221
Name: NM_017739.3(POMGNT1):c.1539+1G>A
RGD ID: 8617310
Condition: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [RCV000501155]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV001030748]|Limb-girdle muscular dystrophy, autosomal recessive [RCV001269143]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648199]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001196668]|Muscle eye brain disease [RCV000049995]|Muscle eye brain disease [RCV000763345]|POMGNT1-Related Disorders [RCV000323217]|Retinitis pigmentosa 76 [RCV000983990]|not provided [RCV000153760]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/09/2019
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant|splice-5
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_001243766.1:c.1539+1G>A
NM_017739.3:c.1539+1G>A
NG_009205.2:g.33209G>A
NC_000001.11:g.46192097C>T
NC_000001.10:g.46657769C>T
NM_001290130.1:c.1110+1G>A
NM_001290129.1:c.1473+1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,192,097 - 46,192,097CLINVAR
GRCh37146,657,769 - 46,657,769CLINVAR
Cytogenetic Map11p34.1CLINVAR
Trait Synonyms: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-Girdle Muscular Dystrophy Type 3C; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED; Retinitis pigmentosa 76; Santavuori congenital muscular dystrophy
Age Of Onset: adolescent|neonatal/infancy
Prevalence: 1-9 / 1 000 000|<1 / 1 000 000




References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:11709191   PMID:12588800   PMID:15466003   PMID:16427280   PMID:17559086   PMID:17878207   PMID:17881266   PMID:17906881   PMID:19299310   PMID:22323514   PMID:23326386   PMID:25741868  
PMID:26013959   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000049995 CLINVAR
  RCV000153760 CLINVAR
  RCV000323217 CLINVAR
  RCV000501155 CLINVAR
  RCV000648199 CLINVAR
  RCV000763345 CLINVAR
  RCV000983990 CLINVAR
  RCV001030748 CLINVAR
  RCV001196668 CLINVAR
  RCV001269143 CLINVAR
dbSNP (RS) rs138642840 CLINVAR
MedGen C0457133 CLINVAR
  C2931907 CLINVAR
  C3150412 CLINVAR
  C3150417 CLINVAR
  C4310704 CLINVAR
  CN239299 CLINVAR
  CN417137 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR
  617123 CLINVAR
SNOMED CT 277950001 CLINVAR