NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 22, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002243660.2

Allele description [Variation Report for NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)]

NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)

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.1648C>T (p.Arg550Ter)

Other names:

NM_018082.6(POLR3B):c.1648C>T; p.Arg550Ter; p.R550*

HGVS:

NC_000012.12:g.106433739C>T
NG_031837.1:g.81082C>T
NM_001160708.2:c.1474C>T
NM_018082.6:c.1648C>TMANE SELECT
NP_001154180.1:p.Arg492Ter
NP_060552.4:p.Arg550Ter
NC_000012.11:g.106827517C>T
NM_018082.5:c.1648C>T

Protein change:

R492*; ARG550TER

Links:

OMIM: 614366.0003; dbSNP: rs267608688

NCBI 1000 Genomes Browser:

rs267608688

Molecular consequence:

NM_001160708.2:c.1474C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_018082.6:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002512891	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002512891

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 22, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002512891.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published functional studies demonstrate a damaging effect (cells expressing R550X failed to differentiate morphologically and phosphorylation/activation levels of molecules associated with mTOR signaling were decreased) (Sawaguchi et al., 2022); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22855961, 18851904, 22036171, 27535533, 35225888)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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