NM_001082971.2(DDC):c.128del (p.Pro43fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 18, 2021
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:: RCV003037229.2

Allele description [Variation Report for NM_001082971.2(DDC):c.128del (p.Pro43fs)]

NM_001082971.2(DDC):c.128del (p.Pro43fs)

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p12.1

Genomic location:

Preferred name:

NM_001082971.2(DDC):c.128del (p.Pro43fs)

HGVS:

NC_000007.14:g.50543960del
NG_008742.2:g.26447del
NM_000790.3:c.128delC
NM_000790.4:c.128del
NM_001082971.2:c.128delMANE SELECT
NM_001242886.2:c.128del
NM_001242887.2:c.128del
NM_001242888.2:c.128del
NM_001242889.2:c.128del
NM_001242890.2:c.128del
NP_000781.2:p.Pro43fs
NP_001076440.2:p.Pro43fs
NP_001229815.2:p.Pro43fs
NP_001229816.2:p.Pro43fs
NP_001229817.2:p.Pro43fs
NP_001229818.2:p.Pro43fs
NP_001229819.2:p.Pro43fs
NC_000007.13:g.50611656del
NC_000007.13:g.50611658del
NG_008742.1:g.26499del

Protein change:

P43fs

Molecular consequence:

NM_000790.4:c.128del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001082971.2:c.128del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001242886.2:c.128del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001242887.2:c.128del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001242888.2:c.128del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001242889.2:c.128del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001242890.2:c.128del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003570757	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 18, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15079002, 32111562 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003570757

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 18, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC.

Neurology. 2004 Apr 13;62(7):1058-65. Review.

PubMed [citation]

PMID:: 15079002

Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.

Hyland K, Reott M.

Pediatr Neurol. 2020 May;106:38-42. doi: 10.1016/j.pediatrneurol.2019.11.022. Epub 2019 Dec 26.

PubMed [citation]

PMID:: 32111562

Details of each submission

From Ambry Genetics, SCV003570757.2

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

Description

The c.128delC (p.P43Lfs*21) alteration, located in exon 2 (coding exon 1) of the DDC gene, consists of a deletion of one nucleotide at position 128, causing a translational frameshift with a predicted alternate stop codon after 21 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This mutation has been detected in two samples submitted for DDC sequence analysis in conjunction with a missense variant (Hyland, 2020). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine