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NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) AND Spondylocostal dysostosis 2, autosomal recessive

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002270021.3

Allele description [Variation Report for NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)]

NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)

Genes:
RIPPLY2-CYB5R4:RIPPLY2-CYB5R4 readthrough [Gene]
RIPPLY2:ripply transcriptional repressor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.2
Genomic location:
Preferred name:
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
HGVS:
  • NC_000006.12:g.83854160A>T
  • NG_046722.1:g.5895A>T
  • NM_001009994.2:c.238A>T
  • NM_001009994.3:c.238A>TMANE SELECT
  • NM_001400774.1:c.-29A>T
  • NM_001400899.1:c.301A>T
  • NM_001400900.1:c.238A>T
  • NP_001009994.1:p.Arg80Ter
  • NP_001387828.1:p.Arg101Ter
  • NP_001387829.1:p.Arg80Trp
  • NC_000006.11:g.84563879A>T
  • NM_001009994.1:c.238A>T
  • NR_103525.2:n.233A>T
  • NR_174603.1:n.233A>T
  • NR_174604.1:n.295A>T
  • NR_174622.1:n.233A>T
Protein change:
R101*; ARG80TER
Links:
OMIM: 609891.0001; dbSNP: rs201419367
NCBI 1000 Genomes Browser:
rs201419367
Molecular consequence:
  • NM_001400774.1:c.-29A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001400900.1:c.238A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103525.2:n.233A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_174603.1:n.233A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_174604.1:n.295A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_174622.1:n.233A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001009994.3:c.238A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001400899.1:c.301A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spondylocostal dysostosis 2, autosomal recessive
Synonyms:
Spondylothoracic Dysostosis; Spondylocostal dysostosis type 2
Identifiers:
MONDO: MONDO:0012097; MedGen: C1837549; Orphanet: 2311; OMIM: 608681

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002555542GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV002555542.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024