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NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000207167.1

Allele description [Variation Report for NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)]

NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)

Genes:
RIPPLY2-CYB5R4:RIPPLY2-CYB5R4 readthrough [Gene]
RIPPLY2:ripply transcriptional repressor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q14.2
Genomic location:
Preferred name:
NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)
HGVS:
  • NC_000006.12:g.83857301del
  • NG_046722.1:g.9036del
  • NM_001009994.3:c.299delMANE SELECT
  • NP_001009994.1:p.Leu100fs
  • NC_000006.11:g.84567020del
  • NM_001009994.2:c.299delT
  • NR_103525.2:n.294del
Protein change:
L100fs
Links:
OMIM: 609891.0003; dbSNP: rs864309489
NCBI 1000 Genomes Browser:
rs864309489
Molecular consequence:
  • NM_001009994.3:c.299del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103525.2:n.294del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000262595OMIM
no assertion criteria provided
Uncertain significance
(Nov 1, 2015)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics..

Am J Med Genet A. 2015 Nov;167A(11):2795-9. doi: 10.1002/ajmg.a.37263. Epub 2015 Aug 4.

PubMed [citation]
PMID:
26238661
PMCID:
PMC4837953

Details of each submission

From OMIM, SCV000262595.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This variant is classified as a variant of unknown significance because its contribution to Klippel-Feil syndrome (KFS; see 214300) has not been confirmed.

In a 13.75-year-old Turkish boy with features of Klippel-Feil syndrome and situs inversus totalis, who was negative for mutation in genes associated with KFS, disorders of primary ciliary dyskinesia, heterotaxy, or segmentation defects of the vertebrae, Karaca et al. (2015) identified homozygosity for a 1-bp deletion (c.299delT, NM_001009994) in the RIPPLY2 gene, causing a frameshift within the conserved segment of the RIPPLY protein domain (Leu100fs). His unaffected first-cousin parents and an unaffected sib were heterozygous for the deletion. The proband had short stature, scoliosis, short neck with decreased mobility, and low posterior hairline, and imaging studies revealed fusion of the cervical vertebrae as well as situs inversus totalis. Other features included upward displacement of the scapula (Sprengel deformity), pectus excavatum of the upper sternum and pectus carinatum of the lower sternum, patent foramen ovale, and solitary kidney.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022