NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Apr 16, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001291580.4

Allele description [Variation Report for NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)]

NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)

Gene:
RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
HGVS:
  • NC_000002.12:g.108751993C>T
  • NG_012210.1:g.37513C>T
  • NM_006267.5:c.1754C>TMANE SELECT
  • NP_006258.3:p.Thr585Met
  • NC_000002.11:g.109368449C>T
  • NM_006267.4:c.1754C>T
  • P49792:p.Thr585Met
Protein change:
T585M; THR585MET
Links:
UniProtKB: P49792#VAR_054997; OMIM: 601181.0001; dbSNP: rs121434502
NCBI 1000 Genomes Browser:
rs121434502
Molecular consequence:
  • NM_006267.5:c.1754C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001480116Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Likely pathogenic
(Feb 1, 2021)
germlineclinical testing

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

SCV001764260GeneDxcriteria provided, single submitter
Pathogenic
(Apr 16, 2021)
germlineclinical testing

Citation Link,

SCV001809103Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001480116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV001764260.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29687329, 30796099, 25522933, 19118815, 28336122, 29741717, 21945312, 20473521, 19811512, 21205700, 27591117, 26923722, 25128471, 24321870)

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001809103.1

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

Last Updated: Nov 27, 2021

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