NM_007055.4(POLR3A):c.1740dup (p.Val581fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000292592.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.1740dup (p.Val581fs)]

NM_007055.4(POLR3A):c.1740dup (p.Val581fs)

Gene:
POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_007055.4(POLR3A):c.1740dup (p.Val581fs)
HGVS:
  • NC_000010.11:g.78009896dup
  • NG_029648.1:g.24647dup
  • NM_007055.4:c.1740dupMANE SELECT
  • NP_008986.2:p.Val581fs
  • NC_000010.10:g.79769654dup
  • NM_007055.3:c.1740_1741insA
  • NM_007055.3:c.1740dupA
Protein change:
V581fs
Links:
dbSNP: rs781745727
NCBI 1000 Genomes Browser:
rs781745727
Molecular consequence:
  • NM_007055.4:c.1740dup - 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
SCV000329967GeneDxcriteria provided, single submitter
Pathogenic
(Jun 21, 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, SCV000329967.3

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

Description

The c.1740dupA pathogenic variant in the POLR3A gene has been reported previously in association with hypomyelinating leukodystrophy, in an affected individual who was heterozygous for the c.1740dupA variant and another variant. (Daoud et al., 2013). The c.1740dupA variant causes a frameshift starting with codon Valine 581, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Val581SerfsX28. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1740dupA variant was not observed in approximately 6,500 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.1740dupA as a pathogenic variant.

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

Last Updated: Jul 26, 2021

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