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NM_001082971.2(DDC):c.439A>C (p.Ser147Arg) AND Deficiency of aromatic-L-amino-acid decarboxylase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 11, 2022
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:
RCV000019390.30

Allele description [Variation Report for NM_001082971.2(DDC):c.439A>C (p.Ser147Arg)]

NM_001082971.2(DDC):c.439A>C (p.Ser147Arg)

Gene:
DDC:dopa decarboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p12.1
Genomic location:
Preferred name:
NM_001082971.2(DDC):c.439A>C (p.Ser147Arg)
HGVS:
  • NC_000007.14:g.50529339T>G
  • NG_008742.1:g.41118A>C
  • NM_000790.4:c.439A>C
  • NM_001082971.2:c.439A>CMANE SELECT
  • NM_001242886.2:c.325A>C
  • NM_001242887.2:c.439A>C
  • NM_001242888.2:c.205A>C
  • NM_001242889.2:c.435+8521A>C
  • NM_001242890.2:c.439A>C
  • NP_000781.2:p.Ser147Arg
  • NP_001076440.2:p.Ser147Arg
  • NP_001229815.2:p.Ser109Arg
  • NP_001229816.2:p.Ser147Arg
  • NP_001229817.2:p.Ser69Arg
  • NP_001229819.2:p.Ser147Arg
  • NC_000007.13:g.50597037T>G
  • P20711:p.Ser147Arg
Protein change:
S109R; SER147ARG
Links:
UniProtKB: P20711#VAR_046139; OMIM: 107930.0004; dbSNP: rs137853210
NCBI 1000 Genomes Browser:
rs137853210
Molecular consequence:
  • NM_001242889.2:c.435+8521A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000790.4:c.439A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001082971.2:c.439A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242886.2:c.325A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242887.2:c.439A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242888.2:c.205A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242890.2:c.439A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of aromatic-L-amino-acid decarboxylase
Synonyms:
DDC deficiency; Aromatic amino acid decarboxylase deficiency; Dopa decarboxylase deficiency
Identifiers:
MONDO: MONDO:0012084; MedGen: C1291564; Orphanet: 35708; OMIM: 608643

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039680OMIM
no assertion criteria provided
Pathogenic
(Aug 11, 2022) 		germlineliterature only

Chang, Y. T., Mues, G., McPherson, J. D., Bedell, J., Marsh, J. L., Hyland, K., Courtwright, K. H., Summers, J. W. Mutations in the human aromatic L-amino acid decarboxylase gene. (Abstract) J. Inherit. Metab. Dis. 21: 4-only, 1998.

Help

Summary from all submissions

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

Details of each submission

From OMIM, SCV000039680.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In a patient with AADC deficiency (AADCD; 608643), Chang et al. (1998) identified a homozygous A-to-C transversion in exon 5 of the AADC gene, resulting in a ser147-to-arg (S147R) substitution.

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

Last Updated: Jul 29, 2023