NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) AND Neonatal pseudo-hydrocephalic progeroid syndrome

Clinical significance:Likely pathogenic (Last evaluated: Apr 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000754383.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)]

NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)

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.2474C>G (p.Ser825Ter)
HGVS:
  • NC_000010.11:g.78000980G>C
  • NG_029648.1:g.33561C>G
  • NM_007055.4:c.2474C>GMANE SELECT
  • NP_008986.2:p.Ser825Ter
  • NC_000010.10:g.79760738G>C
  • NM_007055.3:c.2474C>G
Protein change:
S825*; SER825TER
Links:
OMIM: 614258.0012; dbSNP: rs1564617848
NCBI 1000 Genomes Browser:
rs1564617848
Molecular consequence:
  • NM_007055.4:c.2474C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000786632Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospitalcriteria provided, single submitter
Likely pathogenic
(Apr 1, 2018)
germlineresearch

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

SCV000883065OMIMno assertion criteria providedPathogenic
(Feb 14, 2019)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, et al.

J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.

PubMed [citation]
PMID:
30323018

Details of each submission

From Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital, SCV000786632.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From OMIM, SCV000883065.1

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

Description

For discussion of the c.2474C-G transversion (c.2474C-G, chr10.79760738, GRCh37) in the POLR3A gene, resulting in a ser825-to-ter (S825X) substitution, that was found in compound heterozygous state in a German patient (WRS003) with Wiedemann-Rautenstrauch syndrome (WDRTS; 264090) by Paolacci et al. (2018), see 614258.0010.

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

Last Updated: Aug 27, 2021

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