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NM_014989.7(RIMS1):c.2699-8T>C AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:
Jan 31, 2024
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000175081.16

Allele description [Variation Report for NM_014989.7(RIMS1):c.2699-8T>C]

NM_014989.7(RIMS1):c.2699-8T>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.2699-8T>C
HGVS:
  • NC_000006.12:g.72252753T>C
  • NG_016209.1:g.370807T>C
  • NM_001168407.2:c.1121-8T>C
  • NM_001168408.2:c.1121-8T>C
  • NM_001168409.2:c.878-8T>C
  • NM_001168410.2:c.1076-8T>C
  • NM_001350414.2:c.1121-8T>C
  • NM_001350415.2:c.1121-8T>C
  • NM_001350416.2:c.1121-8T>C
  • NM_001350417.2:c.1121-8T>C
  • NM_001350418.2:c.1121-8T>C
  • NM_001350419.2:c.1121-8T>C
  • NM_001350420.2:c.1121-8T>C
  • NM_001350421.2:c.1052-8T>C
  • NM_001350422.2:c.1121-8T>C
  • NM_001350423.2:c.1121-8T>C
  • NM_001350424.2:c.1052-8T>C
  • NM_001350425.2:c.1121-8T>C
  • NM_001350426.2:c.1121-8T>C
  • NM_001350427.2:c.1121-8T>C
  • NM_001350428.2:c.1052-8T>C
  • NM_001350429.2:c.1121-8T>C
  • NM_001350430.2:c.1052-8T>C
  • NM_001350431.2:c.1121-8T>C
  • NM_001350432.2:c.1121-8T>C
  • NM_001350433.2:c.1121-8T>C
  • NM_001350434.2:c.1121-8T>C
  • NM_001350435.2:c.1121-8T>C
  • NM_001350436.2:c.1121-8T>C
  • NM_001350437.2:c.1052-8T>C
  • NM_001350438.2:c.1121-8T>C
  • NM_001350439.2:c.1121-8T>C
  • NM_001350440.2:c.1121-8T>C
  • NM_001350441.2:c.1121-8T>C
  • NM_001350442.2:c.1121-8T>C
  • NM_001350443.2:c.1121-8T>C
  • NM_001350444.2:c.1121-8T>C
  • NM_001350445.2:c.1121-8T>C
  • NM_001350446.2:c.1121-8T>C
  • NM_001350447.2:c.1121-8T>C
  • NM_001350448.2:c.1121-8T>C
  • NM_001350449.2:c.1121-8T>C
  • NM_001350450.2:c.1052-8T>C
  • NM_001350452.2:c.1121-8T>C
  • NM_001350454.2:c.1121-8T>C
  • NM_001350455.2:c.1121-8T>C
  • NM_001350456.2:c.1121-8T>C
  • NM_001350457.2:c.1121-8T>C
  • NM_001350458.2:c.1121-8T>C
  • NM_001350459.2:c.1052-8T>C
  • NM_001350460.2:c.1121-8T>C
  • NM_001350461.2:c.878-8T>C
  • NM_001350462.2:c.1052-8T>C
  • NM_001350463.2:c.878-8T>C
  • NM_001350464.2:c.878-8T>C
  • NM_001350465.2:c.878-8T>C
  • NM_001350466.2:c.878-8T>C
  • NM_001350467.2:c.878-8T>C
  • NM_001350468.2:c.878-8T>C
  • NM_001350469.2:c.878-8T>C
  • NM_001350470.2:c.1076-8T>C
  • NM_001350471.2:c.1052-8T>C
  • NM_001350472.2:c.1076-8T>C
  • NM_001350473.2:c.1076-8T>C
  • NM_001350474.2:c.1076-8T>C
  • NM_014989.7:c.2699-8T>CMANE SELECT
  • NC_000006.11:g.72962456T>C
  • NM_014989.5:c.2699-8T>C
Links:
dbSNP: rs149883454
NCBI 1000 Genomes Browser:
rs149883454
Molecular consequence:
  • NM_001168407.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168408.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168409.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168410.2:c.1076-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350414.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350415.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350416.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350417.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350418.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350419.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350420.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350421.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350422.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350423.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350424.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350425.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350426.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350427.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350428.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350429.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350430.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350431.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350432.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350433.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350434.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350435.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350436.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350437.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350438.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350439.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350440.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350441.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350442.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350443.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350444.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350445.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350446.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350447.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350448.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350449.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350450.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350452.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350454.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350455.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350456.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350457.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350458.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350459.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350460.2:c.1121-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350461.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350462.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350463.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350464.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350465.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350466.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350467.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350468.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350469.2:c.878-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350470.2:c.1076-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350471.2:c.1052-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350472.2:c.1076-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350473.2:c.1076-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350474.2:c.1076-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014989.7:c.2699-8T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000226509Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Apr 28, 2015) 		germlineclinical testing

Citation Link,

SCV001721118Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 31, 2024) 		germlineclinical testing

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

SCV001965438Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV004159710CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Aug 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Eurofins Ntd Llc (ga), SCV000226509.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Invitae, SCV001721118.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965438.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV004159710.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

RIMS1: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024