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NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) AND Autosomal recessive cutis laxa type 2B

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 16, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000014078.26

Allele description [Variation Report for NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)]

NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)

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.797G>A (p.Arg266Gln)
HGVS:
  • NC_000017.11:g.81934326C>T
  • NG_023032.1:g.7767G>A
  • NM_001282279.2:c.704G>A
  • NM_001282280.2:c.797G>A
  • NM_001282281.2:c.878G>A
  • NM_001330523.2:c.633+327G>A
  • NM_006907.4:c.797G>AMANE SELECT
  • NM_153824.3:c.797G>A
  • NP_001269208.1:p.Arg235Gln
  • NP_001269209.1:p.Arg266Gln
  • NP_001269210.1:p.Arg293Gln
  • NP_008838.2:p.Arg266Gln
  • NP_722546.1:p.Arg266Gln
  • NC_000017.10:g.79892202C>T
  • NM_006907.2:c.797G>A
  • NM_006907.3:c.797G>A
  • P32322:p.Arg266Gln
Protein change:
R235Q; ARG266GLN
Links:
UniProtKB: P32322#VAR_059076; OMIM: 179035.0001; OMIM: 179035.0004; dbSNP: rs121918374
NCBI 1000 Genomes Browser:
rs121918374
Molecular consequence:
  • NM_001330523.2:c.633+327G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282279.2:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282280.2:c.797G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282281.2:c.878G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006907.4:c.797G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153824.3:c.797G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive cutis laxa type 2B (ARCL2B)
Synonyms:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; CUTIS LAXA WITH PROGEROID FEATURES
Identifiers:
MONDO: MONDO:0013051; MedGen: C2751987; OMIM: 612940

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034325OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2009) 		germlineliterature only

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

SCV001190252Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 16, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.

Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT.

Pediatr Dermatol. 2008 Jan-Feb;25(1):66-71. doi: 10.1111/j.1525-1470.2007.00586.x. Review.

PubMed [citation]
PMID:
18304158

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
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000034325.1

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

Description

In 3 children with intrauterine growth retardation, cutis laxa, hip dislocation, hernias, osteopenia, and mental retardation (ARCL2B; 612940) from 2 unrelated consanguineous Kuwaiti families, originally reported by Nanda et al. (2008), Reversade et al. (2009) identified homozygosity for a 797G-A transition in exon 6 of the PYCR1 gene, resulting in an arg266-to-gln (R266Q) substitution predicted to affect splicing by altering the invariable donor splice site at the 3-prime end of exon 6.

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

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024