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NM_018082.6(POLR3B):c.2818-1G>T AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 2021
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:
RCV000443310.3

Allele description [Variation Report for NM_018082.6(POLR3B):c.2818-1G>T]

NM_018082.6(POLR3B):c.2818-1G>T

Genes:
POLR3B:RNA polymerase III subunit B [Gene - OMIM - HGNC]
LOC100287944:uncharacterized LOC100287944 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.3
Genomic location:
Preferred name:
NM_018082.6(POLR3B):c.2818-1G>T
HGVS:
  • NC_000012.12:g.106496751G>T
  • NG_031837.1:g.144094G>T
  • NM_001160708.2:c.2644-1G>T
  • NM_018082.6:c.2818-1G>TMANE SELECT
  • NC_000012.11:g.106890529G>T
  • NM_018082.5:c.2818-1G>T
Links:
dbSNP: rs1057520785
NCBI 1000 Genomes Browser:
rs1057520785
Molecular consequence:
  • NM_001160708.2:c.2644-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_018082.6:c.2818-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000517433GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 19, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000517433.4

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

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Mar 30, 2024