NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(2);Uncertain significance(1) (Last evaluated: Apr 22, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000725610.4

Allele description [Variation Report for NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)]

NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)

Gene:
POLR3B:RNA polymerase III subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.3
Genomic location:
Preferred name:
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
HGVS:
  • NC_000012.12:g.106427339T>C
  • NG_031837.1:g.74682T>C
  • NM_001160708.2:c.1070T>C
  • NM_018082.6:c.1244T>CMANE SELECT
  • NP_001154180.1:p.Met357Thr
  • NP_060552.4:p.Met415Thr
  • NC_000012.11:g.106821117T>C
  • NM_018082.5:c.1244T>C
Protein change:
M357T
Links:
dbSNP: rs199504211
NCBI 1000 Genomes Browser:
rs199504211
Molecular consequence:
  • NM_001160708.2:c.1070T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018082.6:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000338134EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(May 30, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000517434GeneDxcriteria provided, single submitter
Pathogenic
(Apr 22, 2021)
germlineclinical testing

Citation Link,

SCV001447782Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Pathogenic
(Oct 23, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot provided1not providedclinical testing

Citations

PubMed

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF.

JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. Erratum in: JAMA Neurol. 2015 Jan;72(1):128.

PubMed [citation]
PMID:
25133958
PMCID:
PMC4324730

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB.

J Med Genet. 2017 Jan;54(1):19-25. doi: 10.1136/jmedgenet-2016-104064. Epub 2016 Aug 10.

PubMed [citation]
PMID:
27512013
PMCID:
PMC5189673
See all PubMed Citations (3)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000338134.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000517434.5

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

Description

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: 25133958, 27512013)

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447782.1

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

Last Updated: Oct 6, 2021

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