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NM_014989.7(RIMS1):c.2545-4T>C AND RIMS1-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 30, 2020
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:
RCV004731096.1

Allele description [Variation Report for NM_014989.7(RIMS1):c.2545-4T>C]

NM_014989.7(RIMS1):c.2545-4T>C

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.2545-4T>C
HGVS:
  • NC_000006.12:g.72251211T>C
  • NG_016209.1:g.369265T>C
  • NM_001168407.2:c.967-4T>C
  • NM_001168408.2:c.967-4T>C
  • NM_001168409.2:c.724-4T>C
  • NM_001168410.2:c.922-4T>C
  • NM_001350414.2:c.967-4T>C
  • NM_001350415.2:c.967-4T>C
  • NM_001350416.2:c.967-4T>C
  • NM_001350417.2:c.967-4T>C
  • NM_001350418.2:c.967-4T>C
  • NM_001350419.2:c.967-4T>C
  • NM_001350420.2:c.967-4T>C
  • NM_001350421.2:c.898-4T>C
  • NM_001350422.2:c.967-4T>C
  • NM_001350423.2:c.967-4T>C
  • NM_001350424.2:c.898-4T>C
  • NM_001350425.2:c.967-4T>C
  • NM_001350426.2:c.967-4T>C
  • NM_001350427.2:c.967-4T>C
  • NM_001350428.2:c.898-4T>C
  • NM_001350429.2:c.967-4T>C
  • NM_001350430.2:c.898-4T>C
  • NM_001350431.2:c.967-4T>C
  • NM_001350432.2:c.967-4T>C
  • NM_001350433.2:c.967-4T>C
  • NM_001350434.2:c.967-4T>C
  • NM_001350435.2:c.967-4T>C
  • NM_001350436.2:c.967-4T>C
  • NM_001350437.2:c.898-4T>C
  • NM_001350438.2:c.967-4T>C
  • NM_001350439.2:c.967-4T>C
  • NM_001350440.2:c.967-4T>C
  • NM_001350441.2:c.967-4T>C
  • NM_001350442.2:c.967-4T>C
  • NM_001350443.2:c.967-4T>C
  • NM_001350444.2:c.967-4T>C
  • NM_001350445.2:c.967-4T>C
  • NM_001350446.2:c.967-4T>C
  • NM_001350447.2:c.967-4T>C
  • NM_001350448.2:c.967-4T>C
  • NM_001350449.2:c.967-4T>C
  • NM_001350450.2:c.898-4T>C
  • NM_001350452.2:c.967-4T>C
  • NM_001350454.2:c.967-4T>C
  • NM_001350455.2:c.967-4T>C
  • NM_001350456.2:c.967-4T>C
  • NM_001350457.2:c.967-4T>C
  • NM_001350458.2:c.967-4T>C
  • NM_001350459.2:c.898-4T>C
  • NM_001350460.2:c.967-4T>C
  • NM_001350461.2:c.724-4T>C
  • NM_001350462.2:c.898-4T>C
  • NM_001350463.2:c.724-4T>C
  • NM_001350464.2:c.724-4T>C
  • NM_001350465.2:c.724-4T>C
  • NM_001350466.2:c.724-4T>C
  • NM_001350467.2:c.724-4T>C
  • NM_001350468.2:c.724-4T>C
  • NM_001350469.2:c.724-4T>C
  • NM_001350470.2:c.922-4T>C
  • NM_001350471.2:c.898-4T>C
  • NM_001350472.2:c.922-4T>C
  • NM_001350473.2:c.922-4T>C
  • NM_001350474.2:c.922-4T>C
  • NM_014989.7:c.2545-4T>CMANE SELECT
  • NC_000006.11:g.72960914T>C
  • NM_014989.5:c.2545-4T>C
...more
Links:
dbSNP: rs747921988
NCBI 1000 Genomes Browser:
rs747921988
Molecular consequence:
  • NM_001168407.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168408.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168409.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168410.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350414.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350415.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350416.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350417.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350418.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350419.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350420.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350421.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350422.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350423.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350424.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350425.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350426.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350427.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350428.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350429.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350430.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350431.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350432.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350433.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350434.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350435.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350436.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350437.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350438.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350439.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350440.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350441.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350442.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350443.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350444.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350445.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350446.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350447.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350448.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350449.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350450.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350452.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350454.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350455.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350456.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350457.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350458.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350459.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350460.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350461.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350462.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350463.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350464.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350465.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350466.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350467.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350468.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350469.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350470.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350471.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350472.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350473.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350474.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014989.7:c.2545-4T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
RIMS1-related disorder
Synonyms:
RIMS1-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005338891PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(Jul 30, 2020)
germlineclinical testing

Last Updated: Oct 8, 2024

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