NM_018941.3(CLN8):c.70C>G (p.Arg24Gly)

Variation ID: Help
2802
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 8, 2016
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_018941.3(CLN8):c.70C>G (p.Arg24Gly)

Allele ID:
17841
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
  • Chr8: 1771124 (on Assembly GRCh38)
  • Chr8: 1719290 (on Assembly GRCh37)
Protein change:
R24G
HGVS:
  • NG_008656.2:g.20347C>G
  • NM_018941.3:c.70C>G
  • NP_061764.2:p.Arg24Gly
  • NC_000008.11:g.1771124C>G (GRCh38)
  • LRG_691t1:c.70C>G
  • NC_000008.10:g.1719290C>G (GRCh37)
  • NG_008656.1:g.12421C>G
  • Q9UBY8:p.Arg24Gly
  • LRG_691p1:p.Arg24Gly
  • LRG_691:g.20347C>G
Links:
NCBI 1000 Genomes Browser:
rs104894064
Molecular consequence:
NM_018941.3:c.70C>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00004 (G)

1 Affected gene

Variant frequency in dbGaP Help

NM_018941.3(CLN8):c.70C>G (p.Arg24Gly)

GRCh37 Chr8:1719290
Called variantsPotential variants
Sample count0 of 50904 of 40922

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Mar 8, 2016)
criteria provided, single submitter
clinical testingunknown
    CounsylSCV000485234.1
    Pathogenic
    (Oct 1, 1999)
    no assertion criteria providedliterature onlygermlineOMIMSCV000023094.1
    Pathogenic
    (Aug 1, 2013)
    no assertion criteria providedliterature onlynot providedGeneReviewsSCV000086981.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not provided, unknownnot providednot provided
    Counsylnot providednot providedunknownnot providednot providednot providednot provided
    GeneReviewsnot providednot providednot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 20, 2017