• delete

NM_007055.4(POLR3A):c.929G>A (p.Trp310Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 8, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001782669.1

Allele description

NM_007055.4(POLR3A):c.929G>A (p.Trp310Ter)

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.929G>A (p.Trp310Ter)
HGVS:
  • NC_000010.11:g.78021979C>T
  • NG_029648.1:g.12562G>A
  • NM_007055.4:c.929G>AMANE SELECT
  • NP_008986.2:p.Trp310Ter
  • NC_000010.10:g.79781737C>T
Protein change:
W310*
Molecular consequence:
  • NM_007055.4:c.929G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002024715PerkinElmer Genomics
no assertion criteria provided
Likely pathogenic
(Oct 8, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PerkinElmer Genomics, SCV002024715.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022