NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001008019.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter)]

NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter)

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.3291T>G (p.Tyr1097Ter)
HGVS:
  • NC_000010.11:g.77984250A>C
  • NG_029648.1:g.50291T>G
  • NM_007055.4:c.3291T>GMANE SELECT
  • NP_008986.2:p.Tyr1097Ter
  • NC_000010.10:g.79744008A>C
  • NM_007055.3:c.3291T>G
Protein change:
Y1097*
Links:
dbSNP: rs760408755
NCBI 1000 Genomes Browser:
rs760408755
Molecular consequence:
  • NM_007055.4:c.3291T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001167751GeneDxcriteria provided, single submitter
Pathogenic
(Mar 11, 2019)
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, SCV001167751.1

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

Description

The Y1097X variant in the POLR3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y1097X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y1097X 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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