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NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) AND Joubert syndrome 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000201673.1

Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)]

NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)

Gene:
RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q12.2
Genomic location:
Preferred name:
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
HGVS:
  • NC_000016.10:g.53652980dup
  • NG_008991.2:g.55882dup
  • NM_001127897.4:c.1709dup
  • NM_001308334.3:c.1709dup
  • NM_001330538.2:c.1709dup
  • NM_015272.5:c.1709dupMANE SELECT
  • NP_001121369.1:p.Asp571fs
  • NP_001295263.1:p.Asp571fs
  • NP_001317467.1:p.Asp571fs
  • NP_056087.2:p.Asp571fs
  • LRG_696t1:c.1709dup
  • LRG_696t2:c.1709dup
  • LRG_696:g.55882dup
  • LRG_696p1:p.Asp571fs
  • LRG_696p2:p.Asp571fs
  • NC_000016.9:g.53686889_53686890insT
  • NC_000016.9:g.53686892dup
  • NM_015272.2:c.1709dup
  • NM_015272.2:c.1709dupA
  • NM_015272.4:c.1709dupA
  • NM_015272.5:c.1709dupAMANE SELECT
Protein change:
D571fs
Links:
dbSNP: rs778149316
NCBI 1000 Genomes Browser:
rs778149316
Molecular consequence:
  • NM_001127897.4:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308334.3:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330538.2:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015272.5:c.1709dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Joubert syndrome 7 (JBTS7)
Identifiers:
MONDO: MONDO:0012694; MedGen: C1969053; Orphanet: 220497; OMIM: 611560

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256470UW Hindbrain Malformation Research Program, University of Washington

See additional submitters

criteria provided, single submitter

(Bachmann-Gagescu et al. (J Med Genet. 2015))		Pathogenic
(Feb 23, 2015) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]
PMID:
26092869
PMCID:
PMC5082428

Details of each submission

From UW Hindbrain Malformation Research Program, University of Washington, SCV000256470.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024