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NM_001082971.2(DDC):c.440G>T (p.Ser147Ile) AND Deficiency of aromatic-L-amino-acid decarboxylase

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 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:
RCV000987869.1

Allele description [Variation Report for NM_001082971.2(DDC):c.440G>T (p.Ser147Ile)]

NM_001082971.2(DDC):c.440G>T (p.Ser147Ile)

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.440G>T (p.Ser147Ile)
HGVS:
  • NC_000007.14:g.50529338C>A
  • NG_008742.1:g.41119G>T
  • NM_000790.4:c.440G>T
  • NM_001082971.2:c.440G>TMANE SELECT
  • NM_001242886.2:c.326G>T
  • NM_001242887.2:c.440G>T
  • NM_001242888.2:c.206G>T
  • NM_001242889.2:c.435+8522G>T
  • NM_001242890.2:c.440G>T
  • NP_000781.2:p.Ser147Ile
  • NP_001076440.2:p.Ser147Ile
  • NP_001229815.2:p.Ser109Ile
  • NP_001229816.2:p.Ser147Ile
  • NP_001229817.2:p.Ser69Ile
  • NP_001229819.2:p.Ser147Ile
  • NC_000007.13:g.50597036C>A
Protein change:
S109I
Links:
dbSNP: rs1585237892
NCBI 1000 Genomes Browser:
rs1585237892
Molecular consequence:
  • NM_001242889.2:c.435+8522G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000790.4:c.440G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001082971.2:c.440G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242886.2:c.326G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242887.2:c.440G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242888.2:c.206G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242890.2:c.440G>T - 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
SCV001137354Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001137354.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023