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NM_001009994.2(RIPPLY2):c.240-4T>G

Variation ID: Help
221272
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 1, 2015
Number of submission(s):
1
Condition(s):
Spondylocostal dysostosis 6, autosomal recessive[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001009994.2(RIPPLY2):c.240-4T>G

Allele ID:
222983
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.2
Genomic location:
  • Chr6: 83857238 (on Assembly GRCh38)
  • Chr6: 84566957 (on Assembly GRCh37)
Other names:
  • IVS3AS, T-G, -4
HGVS:
  • NG_046722.1:g.8973T>G
  • NM_001009994.2:c.240-4T>G
  • NC_000006.12:g.83857238T>G (GRCh38)
  • NC_000006.11:g.84566957T>G (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 25343988 Fig. 2 to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs370933531
Molecular consequence:
NM_001009994.2:c.240-4T>G: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.00020 (G)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00065
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
  • The Genome Aggregation Database (gnomAD) 0.00081
  • The Genome Aggregation Database (gnomAD), exomes 0.00064
  • Trans-Omics for Precision Medicine (TOPMed) 0.00091

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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 1, 2015)
no assertion criteria providedliterature only
  • Spondylocostal dysostosis 6, autosomal recessive[MedGen | OMIM]
germlineOMIMSCV000262594.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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