NM_007055.4(POLR3A):c.491-2A>G AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000380107.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.491-2A>G]

NM_007055.4(POLR3A):c.491-2A>G

Gene:
POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_007055.4(POLR3A):c.491-2A>G
HGVS:
  • NC_000010.11:g.78024705T>C
  • NG_029648.1:g.9836A>G
  • NM_007055.4:c.491-2A>GMANE SELECT
  • NC_000010.10:g.79784463T>C
  • NM_007055.3:c.491-2A>G
Links:
dbSNP: rs886041636
NCBI 1000 Genomes Browser:
rs886041636
Molecular consequence:
  • NM_007055.4:c.491-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000330338GeneDxcriteria provided, single submitter
Pathogenic
(Mar 12, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330338.6

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

Description

The c.491-2A>G pathogenic variant in the POLR3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.491-2A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.491-2A>G as a pathogenic variant.

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

Last Updated: Feb 27, 2021

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