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NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) AND Wiedemann-Rautenstrauch-like progeroid syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001291253.1

Allele description [Variation Report for NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)]

NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)

Gene:
PYCR1:pyrroline-5-carboxylate reductase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)
HGVS:
  • NC_000017.11:g.81934354C>T
  • NG_023032.1:g.7739G>A
  • NM_001282279.2:c.676G>A
  • NM_001282280.2:c.769G>A
  • NM_001282281.2:c.850G>A
  • NM_001330523.2:c.633+299G>A
  • NM_006907.4:c.769G>AMANE SELECT
  • NM_153824.3:c.769G>A
  • NP_001269208.1:p.Ala226Thr
  • NP_001269209.1:p.Ala257Thr
  • NP_001269210.1:p.Ala284Thr
  • NP_008838.2:p.Ala257Thr
  • NP_722546.1:p.Ala257Thr
  • NC_000017.10:g.79892230C>T
  • NM_006907.2:c.769G>A
  • P32322:p.Ala257Thr
Protein change:
A226T; ALA257THR
Links:
UniProtKB: P32322#VAR_059075; UniProtKB/Swiss-Prot: VAR_059075; OMIM: 179035.0010; dbSNP: rs281875318
NCBI 1000 Genomes Browser:
rs281875318
Molecular consequence:
  • NM_001330523.2:c.633+299G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282279.2:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282280.2:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282281.2:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006907.4:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153824.3:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Wiedemann-Rautenstrauch-like progeroid syndrome
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001479678University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

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 University of Washington Center for Mendelian Genomics, University of Washington, SCV001479678.1

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

Last Updated: Sep 29, 2024