NM_007055.4(POLR3A):c.3337-1G>A AND Neonatal pseudo-hydrocephalic progeroid syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 13, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755670.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.3337-1G>A]

NM_007055.4(POLR3A):c.3337-1G>A

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.3337-1G>A
HGVS:
  • NC_000010.11:g.77984013C>T
  • NG_029648.1:g.50528G>A
  • NM_007055.4:c.3337-1G>AMANE SELECT
  • NC_000010.10:g.79743771C>T
Nucleotide change:
IVS25, G-A, -1
Links:
OMIM: 614258.0019; dbSNP: rs1041175828
NCBI 1000 Genomes Browser:
rs1041175828
Molecular consequence:
  • NM_007055.4:c.3337-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Neonatal pseudo-hydrocephalic progeroid syndrome (WDRTS)
Synonyms:
Wiedemann-Rautenstrauch syndrome
Identifiers:
MONDO: MONDO:0009910; MedGen: C0406586; Orphanet: 3455; OMIM: 264090

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883072OMIMno assertion criteria providedPathogenic
(Feb 13, 2019)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.

Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.

PubMed [citation]
PMID:
30450527
PMCID:
PMC6652186

Details of each submission

From OMIM, SCV000883072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.3337-1G-A transition in intron 25 of the POLR3A gene, predicted to abolish the splice acceptor site, that was found in compound heterozygosity in a 10-year-old boy (patient 1) with Wiedemann-Rautenstrauch syndrome (WDRTS; 264090) by Lessel et al. (2018), see 614258.0018.

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

Last Updated: Oct 7, 2021

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