NM_007055.4(POLR3A):c.601del (p.Ile201fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001009158.2

Allele description [Variation Report for NM_007055.4(POLR3A):c.601del (p.Ile201fs)]

NM_007055.4(POLR3A):c.601del (p.Ile201fs)

Gene:
POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_007055.4(POLR3A):c.601del (p.Ile201fs)
HGVS:
  • NC_000010.11:g.78024593del
  • NG_029648.1:g.9948del
  • NM_007055.4:c.601delMANE SELECT
  • NP_008986.2:p.Ile201fs
  • NC_000010.10:g.79784351del
  • NM_007055.3:c.601del
  • NM_007055.3:c.601delA
Protein change:
I201fs
Links:
dbSNP: rs777280350
NCBI 1000 Genomes Browser:
rs777280350
Molecular consequence:
  • NM_007055.4:c.601del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001168974GeneDxcriteria provided, single submitter
Pathogenic
(Oct 29, 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, SCV001168974.2

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

Description

Frameshift 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 a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32582862)

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

Last Updated: Oct 16, 2021

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