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NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) AND RPGRIP1L-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2024
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:
RCV004732733.1

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:
RPGRIP1L-related disorder
Synonyms:
RPGRIP1L-Related Disorders; RPGRIP1L-related condition
Identifiers:
MedGen: CN239416

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360088PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360088.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The RPGRIP1L c.1709dupA variant is predicted to result in a frameshift and premature protein termination (p.Asp571Glyfs*12). This variant has been reported in the compound heterozygous state in a patient with Joubert syndrome (Table S5, Bachmann-Gagescu et al. 2015. PubMed ID: 26092869). Furthermore, loss of function variants in the RPGRIP1L gene are a known mechanism of disease (Delous et al. 2007. PubMed ID: 17558409). In summary, we classify this variant as pathogenic.

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

Last Updated: Oct 13, 2024