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NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val) AND POLR3B-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001249292.1

Allele description [Variation Report for NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)]

NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)

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.1094C>T (p.Ala365Val)
HGVS:
  • NC_000012.12:g.106410953C>T
  • NG_031837.1:g.58296C>T
  • NM_001160708.2:c.920C>T
  • NM_018082.6:c.1094C>TMANE SELECT
  • NP_001154180.1:p.Ala307Val
  • NP_060552.4:p.Ala365Val
  • NC_000012.11:g.106804731C>T
  • NM_018082.5:c.1094C>T
Protein change:
A307V; ALA365VAL
Links:
OMIM: 614366.0011; dbSNP: rs2037218302
NCBI 1000 Genomes Browser:
rs2037218302
Molecular consequence:
  • NM_001160708.2:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018082.6:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
POLR3B-related disorder
Synonyms:
POLR3B-related condition; POLR3B-related disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423242GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423242.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 01-22-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024