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NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 2023
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV003727822.2

Allele description [Variation Report for NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)]

NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)

Gene:
RIMS1:regulating synaptic membrane exocytosis 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)
HGVS:
  • NC_000006.12:g.72400706C>T
  • NG_016209.1:g.518759C>T
  • NM_001168407.2:c.3031C>T
  • NM_001168408.2:c.2446C>T
  • NM_001168409.2:c.2275C>T
  • NM_001168410.2:c.2473C>T
  • NM_001168411.2:c.652C>T
  • NM_001350414.2:c.2992C>T
  • NM_001350415.2:c.3088C>T
  • NM_001350416.2:c.3037C>T
  • NM_001350417.2:c.2518C>T
  • NM_001350418.2:c.3010C>T
  • NM_001350419.2:c.2290C>T
  • NM_001350420.2:c.3145C>T
  • NM_001350421.2:c.2890C>T
  • NM_001350422.2:c.2515C>T
  • NM_001350423.2:c.2779C>T
  • NM_001350424.2:c.2377C>T
  • NM_001350425.2:c.2989C>T
  • NM_001350426.2:c.2365C>T
  • NM_001350427.2:c.2443C>T
  • NM_001350428.2:c.2449C>T
  • NM_001350429.2:c.2809C>T
  • NM_001350430.2:c.2446C>T
  • NM_001350431.2:c.3127C>T
  • NM_001350432.2:c.2353C>T
  • NM_001350433.2:c.3118C>T
  • NM_001350434.2:c.2593C>T
  • NM_001350435.2:c.2980C>T
  • NM_001350436.2:c.3223C>T
  • NM_001350437.2:c.2974C>T
  • NM_001350438.2:c.2698C>T
  • NM_001350439.2:c.2962C>T
  • NM_001350440.2:c.2362C>T
  • NM_001350441.2:c.2959C>T
  • NM_001350442.2:c.2701C>T
  • NM_001350443.2:c.2932C>T
  • NM_001350444.2:c.2806C>T
  • NM_001350445.2:c.2599C>T
  • NM_001350446.2:c.3217C>T
  • NM_001350447.2:c.2878C>T
  • NM_001350448.2:c.3034C>T
  • NM_001350449.2:c.2425C>T
  • NM_001350450.2:c.2374C>T
  • NM_001350454.2:c.2941C>T
  • NM_001350455.2:c.2293C>T
  • NM_001350456.2:c.3214C>T
  • NM_001350457.2:c.2971C>T
  • NM_001350458.2:c.3040C>T
  • NM_001350459.2:c.2893C>T
  • NM_001350460.2:c.2911C>T
  • NM_001350461.2:c.2761C>T
  • NM_001350462.2:c.3076C>T
  • NM_001350463.2:c.2716C>T
  • NM_001350464.2:c.2719C>T
  • NM_001350465.2:c.2203C>T
  • NM_001350466.2:c.2722C>T
  • NM_001350467.2:c.2638C>T
  • NM_001350468.2:c.2563C>T
  • NM_001350469.2:c.2791C>T
  • NM_001350470.2:c.2479C>T
  • NM_001350471.2:c.2872C>T
  • NM_001350472.2:c.2398C>T
  • NM_001350473.2:c.2401C>T
  • NM_001350474.2:c.2764C>T
  • NM_014989.7:c.5071C>TMANE SELECT
  • NP_001161879.1:p.Arg1011Ter
  • NP_001161880.1:p.Arg816Ter
  • NP_001161881.1:p.Arg759Ter
  • NP_001161882.1:p.Arg825Ter
  • NP_001161883.1:p.Arg218Ter
  • NP_001337343.1:p.Arg998Ter
  • NP_001337344.1:p.Arg1030Ter
  • NP_001337345.1:p.Arg1013Ter
  • NP_001337346.1:p.Arg840Ter
  • NP_001337347.1:p.Arg1004Ter
  • NP_001337348.1:p.Arg764Ter
  • NP_001337349.1:p.Arg1049Ter
  • NP_001337350.1:p.Arg964Ter
  • NP_001337351.1:p.Arg839Ter
  • NP_001337352.1:p.Arg927Ter
  • NP_001337353.1:p.Arg793Ter
  • NP_001337354.1:p.Arg997Ter
  • NP_001337355.1:p.Arg789Ter
  • NP_001337356.1:p.Arg815Ter
  • NP_001337357.1:p.Arg817Ter
  • NP_001337358.1:p.Arg937Ter
  • NP_001337359.1:p.Arg816Ter
  • NP_001337360.1:p.Arg1043Ter
  • NP_001337361.1:p.Arg785Ter
  • NP_001337362.1:p.Arg1040Ter
  • NP_001337363.1:p.Arg865Ter
  • NP_001337364.1:p.Arg994Ter
  • NP_001337365.1:p.Arg1075Ter
  • NP_001337366.1:p.Arg992Ter
  • NP_001337367.1:p.Arg900Ter
  • NP_001337368.1:p.Arg988Ter
  • NP_001337369.1:p.Arg788Ter
  • NP_001337370.1:p.Arg987Ter
  • NP_001337371.1:p.Arg901Ter
  • NP_001337372.1:p.Arg978Ter
  • NP_001337373.1:p.Arg936Ter
  • NP_001337374.1:p.Arg867Ter
  • NP_001337375.1:p.Arg1073Ter
  • NP_001337376.1:p.Arg960Ter
  • NP_001337377.1:p.Arg1012Ter
  • NP_001337378.1:p.Arg809Ter
  • NP_001337379.1:p.Arg792Ter
  • NP_001337383.1:p.Arg981Ter
  • NP_001337384.1:p.Arg765Ter
  • NP_001337385.1:p.Arg1072Ter
  • NP_001337386.1:p.Arg991Ter
  • NP_001337387.1:p.Arg1014Ter
  • NP_001337388.1:p.Arg965Ter
  • NP_001337389.1:p.Arg971Ter
  • NP_001337390.1:p.Arg921Ter
  • NP_001337391.1:p.Arg1026Ter
  • NP_001337392.1:p.Arg906Ter
  • NP_001337393.1:p.Arg907Ter
  • NP_001337394.1:p.Arg735Ter
  • NP_001337395.1:p.Arg908Ter
  • NP_001337396.1:p.Arg880Ter
  • NP_001337397.1:p.Arg855Ter
  • NP_001337398.1:p.Arg931Ter
  • NP_001337399.1:p.Arg827Ter
  • NP_001337400.1:p.Arg958Ter
  • NP_001337401.1:p.Arg800Ter
  • NP_001337402.1:p.Arg801Ter
  • NP_001337403.1:p.Arg922Ter
  • NP_055804.2:p.Arg1691Ter
  • NP_055804.2:p.Arg1691Ter
  • NC_000006.11:g.73110408C>T
  • NM_014989.5:c.5071C>T
...more
Protein change:
R1004*
Links:
dbSNP: rs528476500
NCBI 1000 Genomes Browser:
rs528476500
Molecular consequence:
  • NM_001168407.2:c.3031C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168408.2:c.2446C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168409.2:c.2275C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168410.2:c.2473C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168411.2:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350414.2:c.2992C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350415.2:c.3088C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350416.2:c.3037C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350417.2:c.2518C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350418.2:c.3010C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350419.2:c.2290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350420.2:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350421.2:c.2890C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350422.2:c.2515C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350423.2:c.2779C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350424.2:c.2377C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350425.2:c.2989C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350426.2:c.2365C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350427.2:c.2443C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350428.2:c.2449C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350429.2:c.2809C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350430.2:c.2446C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350431.2:c.3127C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350432.2:c.2353C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350433.2:c.3118C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350434.2:c.2593C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350435.2:c.2980C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350436.2:c.3223C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350437.2:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350438.2:c.2698C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350439.2:c.2962C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350440.2:c.2362C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350441.2:c.2959C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350442.2:c.2701C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350443.2:c.2932C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350444.2:c.2806C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350445.2:c.2599C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350446.2:c.3217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350447.2:c.2878C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350448.2:c.3034C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350449.2:c.2425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350450.2:c.2374C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350454.2:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350455.2:c.2293C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350456.2:c.3214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350457.2:c.2971C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350458.2:c.3040C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350459.2:c.2893C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350460.2:c.2911C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350461.2:c.2761C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350462.2:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350463.2:c.2716C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350464.2:c.2719C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350465.2:c.2203C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350466.2:c.2722C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350467.2:c.2638C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350468.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350469.2:c.2791C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350470.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350471.2:c.2872C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350472.2:c.2398C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350473.2:c.2401C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350474.2:c.2764C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014989.7:c.5071C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004540498Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Aug 28, 2023)
germlineclinical testing

PubMed (2)
[]

Last Updated: Sep 29, 2024

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