U.S. flag

An official website of the United States government

NM_014989.7(RIMS1):c.2545-4T>C AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 10, 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:
RCV001477071.7

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001681297Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Dec 10, 2023)
germlineclinical testing

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

Last Updated: Oct 8, 2024

External link. Please review our privacy policy.