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NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) AND PYCR1-related de Barsy syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2009
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:
RCV000022742.27

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:
PYCR1-related de Barsy syndrome
Synonyms:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; DE BARSY SYNDROME B; Autosomal recessive cutis laxa type 3B
Identifiers:
MONDO: MONDO:0013755; MedGen: C3280799; Orphanet: 2962; OMIM: 614438

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044031OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2009) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

De Barsy syndrome--an autosomal recessive, progeroid syndrome.

Kunze J, Majewski F, Montgomery P, Hockey A, Karkut I, Riebel T.

Eur J Pediatr. 1985 Nov;144(4):348-54.

PubMed [citation]
PMID:
4076251

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, et al.

Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Erratum in: Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-022-01013-2.

PubMed [citation]
PMID:
19648921

Details of each submission

From OMIM, SCV000044031.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 3 sibs from an Australian family with autosomal recessive cutis laxa and cataract, diagnosed with de Barsy syndrome (ARCL3B; 614438) by Kunze et al. (1985), Reversade et al. (2009) identified homozygosity for a 769G-A transition in exon 6 of the PYCR1 gene, resulting in an ala257-to-thr (A257T) substitution.

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

Last Updated: Sep 29, 2024