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NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 18, 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:
RCV000899846.9

Allele description [Variation Report for NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro)]

NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro)

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.3941T>C (p.Leu1314Pro)
HGVS:
  • NC_000006.12:g.72307348T>C
  • NG_016209.1:g.425402T>C
  • NM_001168407.2:c.1901T>C
  • NM_001168408.2:c.1741+15302T>C
  • NM_001168409.2:c.1570+15302T>C
  • NM_001168410.2:c.1768+15302T>C
  • NM_001350414.2:c.1862T>C
  • NM_001350415.2:c.1985T>C
  • NM_001350416.2:c.1934T>C
  • NM_001350417.2:c.1813+15302T>C
  • NM_001350418.2:c.1907T>C
  • NM_001350419.2:c.1585+15302T>C
  • NM_001350420.2:c.2015T>C
  • NM_001350421.2:c.1760T>C
  • NM_001350422.2:c.1810+15302T>C
  • NM_001350423.2:c.1676T>C
  • NM_001350424.2:c.1672+15302T>C
  • NM_001350425.2:c.1859T>C
  • NM_001350426.2:c.1660+15302T>C
  • NM_001350427.2:c.1738+15302T>C
  • NM_001350428.2:c.1744+15302T>C
  • NM_001350429.2:c.1679T>C
  • NM_001350430.2:c.1741+15302T>C
  • NM_001350431.2:c.1997T>C
  • NM_001350432.2:c.1648+15302T>C
  • NM_001350433.2:c.1988T>C
  • NM_001350434.2:c.1888+15302T>C
  • NM_001350435.2:c.1850T>C
  • NM_001350436.2:c.2093T>C
  • NM_001350437.2:c.1844T>C
  • NM_001350438.2:c.1993+15302T>C
  • NM_001350439.2:c.1832T>C
  • NM_001350440.2:c.1657+15302T>C
  • NM_001350441.2:c.1829T>C
  • NM_001350442.2:c.1996+15302T>C
  • NM_001350443.2:c.1829T>C
  • NM_001350444.2:c.1676T>C
  • NM_001350445.2:c.1894+15302T>C
  • NM_001350446.2:c.2087T>C
  • NM_001350447.2:c.1748T>C
  • NM_001350448.2:c.1904T>C
  • NM_001350449.2:c.1720+15302T>C
  • NM_001350450.2:c.1669+15302T>C
  • NM_001350454.2:c.1811T>C
  • NM_001350455.2:c.1588+15302T>C
  • NM_001350456.2:c.2084T>C
  • NM_001350457.2:c.1841T>C
  • NM_001350458.2:c.1910T>C
  • NM_001350459.2:c.1763T>C
  • NM_001350460.2:c.1781T>C
  • NM_001350461.2:c.1658T>C
  • NM_001350462.2:c.1946T>C
  • NM_001350463.2:c.1586T>C
  • NM_001350464.2:c.1589T>C
  • NM_001350465.2:c.1498+15302T>C
  • NM_001350466.2:c.1619T>C
  • NM_001350467.2:c.1508T>C
  • NM_001350468.2:c.1433T>C
  • NM_001350469.2:c.1661T>C
  • NM_001350470.2:c.1774+15302T>C
  • NM_001350471.2:c.1742T>C
  • NM_001350472.2:c.1693+15302T>C
  • NM_001350473.2:c.1696+15302T>C
  • NM_001350474.2:c.1634T>C
  • NM_014989.7:c.3941T>CMANE SELECT
  • NP_001161879.1:p.Leu634Pro
  • NP_001337343.1:p.Leu621Pro
  • NP_001337344.1:p.Leu662Pro
  • NP_001337345.1:p.Leu645Pro
  • NP_001337347.1:p.Leu636Pro
  • NP_001337349.1:p.Leu672Pro
  • NP_001337350.1:p.Leu587Pro
  • NP_001337352.1:p.Leu559Pro
  • NP_001337354.1:p.Leu620Pro
  • NP_001337358.1:p.Leu560Pro
  • NP_001337360.1:p.Leu666Pro
  • NP_001337362.1:p.Leu663Pro
  • NP_001337364.1:p.Leu617Pro
  • NP_001337365.1:p.Leu698Pro
  • NP_001337366.1:p.Leu615Pro
  • NP_001337368.1:p.Leu611Pro
  • NP_001337370.1:p.Leu610Pro
  • NP_001337372.1:p.Leu610Pro
  • NP_001337373.1:p.Leu559Pro
  • NP_001337375.1:p.Leu696Pro
  • NP_001337376.1:p.Leu583Pro
  • NP_001337377.1:p.Leu635Pro
  • NP_001337383.1:p.Leu604Pro
  • NP_001337385.1:p.Leu695Pro
  • NP_001337386.1:p.Leu614Pro
  • NP_001337387.1:p.Leu637Pro
  • NP_001337388.1:p.Leu588Pro
  • NP_001337389.1:p.Leu594Pro
  • NP_001337390.1:p.Leu553Pro
  • NP_001337391.1:p.Leu649Pro
  • NP_001337392.1:p.Leu529Pro
  • NP_001337393.1:p.Leu530Pro
  • NP_001337395.1:p.Leu540Pro
  • NP_001337396.1:p.Leu503Pro
  • NP_001337397.1:p.Leu478Pro
  • NP_001337398.1:p.Leu554Pro
  • NP_001337400.1:p.Leu581Pro
  • NP_001337403.1:p.Leu545Pro
  • NP_055804.2:p.Leu1314Pro
  • NP_055804.2:p.Leu1314Pro
  • NC_000006.11:g.73017051T>C
  • NM_014989.5:c.3941T>C
...more
Protein change:
L1314P
Links:
dbSNP: rs201798320
NCBI 1000 Genomes Browser:
rs201798320
Molecular consequence:
  • NM_001168408.2:c.1741+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168409.2:c.1570+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168410.2:c.1768+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350417.2:c.1813+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350419.2:c.1585+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350422.2:c.1810+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350424.2:c.1672+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350426.2:c.1660+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350427.2:c.1738+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350428.2:c.1744+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350430.2:c.1741+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350432.2:c.1648+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350434.2:c.1888+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350438.2:c.1993+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350440.2:c.1657+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350442.2:c.1996+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350445.2:c.1894+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350449.2:c.1720+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350450.2:c.1669+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350455.2:c.1588+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350465.2:c.1498+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350470.2:c.1774+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350472.2:c.1693+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350473.2:c.1696+15302T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168407.2:c.1901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350414.2:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350415.2:c.1985T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350416.2:c.1934T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350418.2:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350420.2:c.2015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350421.2:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350423.2:c.1676T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350425.2:c.1859T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350429.2:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350431.2:c.1997T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350433.2:c.1988T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350435.2:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350436.2:c.2093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350437.2:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350439.2:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350441.2:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350443.2:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350444.2:c.1676T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350446.2:c.2087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350447.2:c.1748T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350448.2:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350454.2:c.1811T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350456.2:c.2084T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350457.2:c.1841T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350458.2:c.1910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350459.2:c.1763T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350460.2:c.1781T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350461.2:c.1658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350462.2:c.1946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350463.2:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350464.2:c.1589T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350466.2:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350467.2:c.1508T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350468.2:c.1433T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350469.2:c.1661T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350471.2:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350474.2:c.1634T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014989.7:c.3941T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001044135Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Nov 18, 2023)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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