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NM_015972.4(POLR1D):c.170dup (p.Tyr57Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 30, 2018
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:
RCV000658449.1

Allele description [Variation Report for NM_015972.4(POLR1D):c.170dup (p.Tyr57Ter)]

NM_015972.4(POLR1D):c.170dup (p.Tyr57Ter)

Gene:
POLR1D:RNA polymerase I and III subunit D [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q12.2
Genomic location:
Preferred name:
NM_015972.4(POLR1D):c.170dup (p.Tyr57Ter)
HGVS:
  • NC_000013.11:g.27623018dup
  • NG_028908.1:g.7276dup
  • NM_001206559.2:c.-59+1878dup
  • NM_015972.4:c.170dupMANE SELECT
  • NM_152705.3:c.26+1009dup
  • NP_057056.1:p.Tyr57Ter
  • NC_000013.10:g.28197155dup
  • NM_015972.3:c.170dupA
Protein change:
Y57*
Links:
dbSNP: rs1555271308
NCBI 1000 Genomes Browser:
rs1555271308
Molecular consequence:
  • NM_001206559.2:c.-59+1878dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_152705.3:c.26+1009dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015972.4:c.170dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000780221GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 30, 2018) 		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, SCV000780221.2

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

Description

The c.170dupA variant in the POLR1D gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.170dupA variant creates a premature Stop codon at Tyrosine 57, denoted p.Tyr57Ter. This variant is predicted to cause loss of normal protein function through protein truncation. The c.170dupA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.170dupA as a pathogenic variant.

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

Last Updated: Apr 23, 2022