NM_006907.4(PYCR1):c.728A>G (p.His243Arg) AND Autosomal recessive cutis laxa type 2B

Germline classification:: Pathogenic (1 submission)
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:: RCV001290342.1

Allele description [Variation Report for NM_006907.4(PYCR1):c.728A>G (p.His243Arg)]

NM_006907.4(PYCR1):c.728A>G (p.His243Arg)

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.728A>G (p.His243Arg)

HGVS:

NC_000017.11:g.81934395T>C
NG_023032.1:g.7698A>G
NM_001282279.2:c.635A>G
NM_001282280.2:c.728A>G
NM_001282281.2:c.809A>G
NM_001330523.2:c.633+258A>G
NM_006907.4:c.728A>GMANE SELECT
NM_153824.3:c.728A>G
NP_001269208.1:p.His212Arg
NP_001269209.1:p.His243Arg
NP_001269210.1:p.His270Arg
NP_008838.2:p.His243Arg
NP_722546.1:p.His243Arg
NC_000017.10:g.79892271T>C
NM_001282280.1:c.728A>G

Protein change:

H212R

Links:

dbSNP: rs2041098364

NCBI 1000 Genomes Browser:

rs2041098364

Molecular consequence:

NM_001330523.2:c.633+258A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282279.2:c.635A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282280.2:c.728A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282281.2:c.809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006907.4:c.728A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153824.3:c.728A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Uranoscopus sp. TOUKAI-MISHIMA mitochondrial gene for 12S rRNA, partial sequence, specimen_voucher: KAUM:I:88612
gi|1293100011|dbj|LC340216.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478261	Division of Biology and Genetics, University of Brescia	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	paternal	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 28499588

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478261

Division of Biology and Genetics, University of Brescia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

paternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Indian	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

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

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

Ritelli M, Palit A, Giacopuzzi E, Inamadar AC, Dordoni C, Mujja A, Murgude MS, Colombi M.

J Dermatol Sci. 2017 Oct;88(1):141-143. doi: 10.1016/j.jdermsci.2017.04.010. Epub 2017 Apr 29. No abstract available.

PubMed [citation]

PMID:: 28499588

Details of each submission

From Division of Biology and Genetics, University of Brescia, SCV001478261.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Indian	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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