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NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) AND RPGRIP1L-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2022
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:
RCV004528446.1

Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)]

NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)

Gene:
RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16q12.2
Genomic location:
Preferred name:
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
HGVS:
  • NC_000016.10:g.53638396GAG[2]
  • NG_008991.2:g.70458CCT[2]
  • NM_001127897.4:c.2959-548CCT[2]
  • NM_001308334.3:c.2968CCT[2]
  • NM_001330538.2:c.2959-548CCT[2]
  • NM_015272.5:c.2968CCT[2]MANE SELECT
  • NM_015272.5:c.2974_2976del
  • NP_001295263.1:p.Pro992del
  • NP_056087.2:p.Pro992del
  • LRG_696t1:c.2959-548CCT[2]
  • LRG_696t2:c.2968CCT[2]
  • LRG_696:g.70458CCT[2]
  • LRG_696p2:p.Pro992del
  • NC_000016.9:g.53672306_53672308del
  • NC_000016.9:g.53672308GAG[2]
  • NM_015272.4:c.2974_2976delCCT
  • NM_015272.5:c.2974_2976delMANE SELECT
  • NM_015272.5:c.2974_2976delCCTMANE SELECT
Protein change:
P992del
Links:
dbSNP: rs752076060
NCBI 1000 Genomes Browser:
rs752076060
Molecular consequence:
  • NM_001308334.3:c.2968CCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_015272.5:c.2968CCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001127897.4:c.2959-548CCT[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330538.2:c.2959-548CCT[2] - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004108022PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004108022.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The RPGRIP1L c.2974_2976delCCT variant is predicted to result in an in-frame deletion (p.Pro992del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.092% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-53672305-CAGG-C), which is likely too common for an undocumented disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 24, 2024