NM_014989.7(RIMS1):c.4618+20dup AND Cone-Rod Dystrophy, Dominant

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000386150.2

Allele description [Variation Report for NM_014989.7(RIMS1):c.4618+20dup]

NM_014989.7(RIMS1):c.4618+20dup

Gene:
RIMS1:regulating synaptic membrane exocytosis 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_014989.7(RIMS1):c.4618+20dup
HGVS:
  • NC_000006.12:g.72392830dup
  • NG_016209.1:g.510883dup
  • NM_001168407.2:c.2578+20dup
  • NM_001168408.2:c.1993+20dup
  • NM_001168409.2:c.1822+20dup
  • NM_001168410.2:c.2020+20dup
  • NM_001168411.2:c.199+20dup
  • NM_001350414.2:c.2539+20dup
  • NM_001350415.2:c.2635+20dup
  • NM_001350416.2:c.2584+20dup
  • NM_001350417.2:c.2065+20dup
  • NM_001350418.2:c.2557+20dup
  • NM_001350419.2:c.1837+20dup
  • NM_001350420.2:c.2692+20dup
  • NM_001350421.2:c.2437+20dup
  • NM_001350422.2:c.2062+20dup
  • NM_001350423.2:c.2326+20dup
  • NM_001350424.2:c.1924+20dup
  • NM_001350425.2:c.2536+20dup
  • NM_001350426.2:c.1912+20dup
  • NM_001350427.2:c.1990+20dup
  • NM_001350428.2:c.1996+20dup
  • NM_001350429.2:c.2356+20dup
  • NM_001350430.2:c.1993+20dup
  • NM_001350431.2:c.2674+20dup
  • NM_001350432.2:c.1900+20dup
  • NM_001350433.2:c.2665+20dup
  • NM_001350434.2:c.2140+20dup
  • NM_001350435.2:c.2527+20dup
  • NM_001350436.2:c.2770+20dup
  • NM_001350437.2:c.2521+20dup
  • NM_001350438.2:c.2245+20dup
  • NM_001350439.2:c.2509+20dup
  • NM_001350440.2:c.1909+20dup
  • NM_001350441.2:c.2506+20dup
  • NM_001350442.2:c.2248+20dup
  • NM_001350443.2:c.2479+20dup
  • NM_001350444.2:c.2353+20dup
  • NM_001350445.2:c.2146+20dup
  • NM_001350446.2:c.2764+20dup
  • NM_001350447.2:c.2425+20dup
  • NM_001350448.2:c.2581+20dup
  • NM_001350449.2:c.1972+20dup
  • NM_001350450.2:c.1921+20dup
  • NM_001350454.2:c.2488+20dup
  • NM_001350455.2:c.1840+20dup
  • NM_001350456.2:c.2761+20dup
  • NM_001350457.2:c.2518+20dup
  • NM_001350458.2:c.2587+20dup
  • NM_001350459.2:c.2440+20dup
  • NM_001350460.2:c.2458+20dup
  • NM_001350461.2:c.2308+20dup
  • NM_001350462.2:c.2623+20dup
  • NM_001350463.2:c.2263+20dup
  • NM_001350464.2:c.2266+20dup
  • NM_001350465.2:c.1750+20dup
  • NM_001350466.2:c.2269+20dup
  • NM_001350467.2:c.2185+20dup
  • NM_001350468.2:c.2110+20dup
  • NM_001350469.2:c.2338+20dup
  • NM_001350470.2:c.2026+20dup
  • NM_001350471.2:c.2419+20dup
  • NM_001350472.2:c.1945+20dup
  • NM_001350473.2:c.1948+20dup
  • NM_001350474.2:c.2311+20dup
  • NM_014989.7:c.4618+20dupMANE SELECT
  • NC_000006.11:g.73102522_73102523insT
  • NC_000006.11:g.73102532dup
  • NM_014989.5:c.4618+20dupT
Links:
dbSNP: rs113359739
NCBI 1000 Genomes Browser:
rs113359739
Molecular consequence:
  • NM_001168407.2:c.2578+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168408.2:c.1993+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168409.2:c.1822+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168410.2:c.2020+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168411.2:c.199+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350414.2:c.2539+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350415.2:c.2635+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350416.2:c.2584+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350417.2:c.2065+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350418.2:c.2557+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350419.2:c.1837+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350420.2:c.2692+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350421.2:c.2437+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350422.2:c.2062+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350423.2:c.2326+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350424.2:c.1924+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350425.2:c.2536+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350426.2:c.1912+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350427.2:c.1990+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350428.2:c.1996+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350429.2:c.2356+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350430.2:c.1993+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350431.2:c.2674+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350432.2:c.1900+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350433.2:c.2665+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350434.2:c.2140+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350435.2:c.2527+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350436.2:c.2770+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350437.2:c.2521+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350438.2:c.2245+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350439.2:c.2509+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350440.2:c.1909+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350441.2:c.2506+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350442.2:c.2248+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350443.2:c.2479+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350444.2:c.2353+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350445.2:c.2146+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350446.2:c.2764+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350447.2:c.2425+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350448.2:c.2581+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350449.2:c.1972+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350450.2:c.1921+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350454.2:c.2488+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350455.2:c.1840+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350456.2:c.2761+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350457.2:c.2518+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350458.2:c.2587+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350459.2:c.2440+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350460.2:c.2458+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350461.2:c.2308+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350462.2:c.2623+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350463.2:c.2263+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350464.2:c.2266+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350465.2:c.1750+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350466.2:c.2269+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350467.2:c.2185+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350468.2:c.2110+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350469.2:c.2338+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350470.2:c.2026+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350471.2:c.2419+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350472.2:c.1945+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350473.2:c.1948+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350474.2:c.2311+20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014989.7:c.4618+20dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cone-Rod Dystrophy, Dominant
Identifiers:
MedGen: CN239348

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000464685Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000464685.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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