NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 5, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000427451.3

Allele description [Variation Report for NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)]

NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)

Gene:
RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
HGVS:
  • NC_000001.11:g.155904494A>T
  • NG_033885.1:g.11909T>A
  • NM_001256820.2:c.138T>A
  • NM_001256821.2:c.297T>A
  • NM_006912.6:c.246T>AMANE SELECT
  • NP_001243749.1:p.Phe46Leu
  • NP_001243750.1:p.Phe99Leu
  • NP_008843.1:p.Phe82Leu
  • LRG_1372t1:c.246T>A
  • LRG_1372:g.11909T>A
  • LRG_1372p1:p.Phe82Leu
  • NC_000001.10:g.155874285A>T
  • NM_006912.5:c.246T>A
  • Q92963:p.Phe82Leu
Protein change:
F46L
Links:
UniProtKB: Q92963#VAR_070152; dbSNP: rs730881014
NCBI 1000 Genomes Browser:
rs730881014
Molecular consequence:
  • NM_001256820.2:c.138T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256821.2:c.297T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006912.6:c.246T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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
SCV000534935GeneDxcriteria provided, single submitter
Pathogenic
(Aug 5, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000534935.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published in vitro studies demonstrate that variant induces elevated and prolonged phosporylation of downstream targets and strongly enhances protein-proteins interactions, consistent with a gain-of-function effect (Meyer Zum Buschenfelde et al., 2018); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29734338, 33190430, 26714497, 23765226)

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

Last Updated: Oct 8, 2021

Support Center