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NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) AND Pterin-4 alpha-carbinolamine dehydratase 1 deficiency

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Feb 2, 2022
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:
RCV000018287.29

Allele description [Variation Report for NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)]

NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)

Gene:
PCBD1:pterin-4 alpha-carbinolamine dehydratase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)
HGVS:
  • NC_000010.11:g.70884021A>G
  • NG_008646.1:g.9764T>C
  • NM_000281.4:c.244T>CMANE SELECT
  • NM_001289797.2:c.97T>C
  • NM_001323004.2:c.216+1131T>C
  • NP_000272.1:p.Cys82Arg
  • NP_001276726.1:p.Cys33Arg
  • NC_000010.10:g.72643778A>G
  • P61457:p.Cys82Arg
Protein change:
C33R; CYS82ARG
Links:
UniProtKB: P61457#VAR_005528; OMIM: 126090.0002; dbSNP: rs104894177
NCBI 1000 Genomes Browser:
rs104894177
Molecular consequence:
  • NM_001323004.2:c.216+1131T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000281.4:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289797.2:c.97T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Synonyms:
CADH DEFICIENCY; Hyperphenylalaninemia, BH4-deficient, D; Hyperphenylalaninemia due to dehydratase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009908; MedGen: C1849700; Orphanet: 238583; OMIM: 264070

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038566OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1993)
germlineliterature only

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

SCV002806752Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 2, 2022)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD.

Am J Hum Genet. 1993 Sep;53(3):768-74.

PubMed [citation]
PMID:
8352282
PMCID:
PMC1682436

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

Details of each submission

From OMIM, SCV000038566.2

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

Description

For discussion of the cys82-to-arg (C82R) mutation in the PCBD1 gene that was found in compound heterozygous state in a patient with HPABH4D (264070) by Citron et al. (1993), see 126090.0001.

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

From Fulgent Genetics, Fulgent Genetics, SCV002806752.1

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

Last Updated: Jan 7, 2023