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NM_001082971.2(DDC):c.232G>T (p.Ala78Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 2020
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:
RCV002562523.2

Allele description [Variation Report for NM_001082971.2(DDC):c.232G>T (p.Ala78Ser)]

NM_001082971.2(DDC):c.232G>T (p.Ala78Ser)

Genes:
DDC-AS1:DDC antisense RNA 1 [Gene - HGNC]
DDC:dopa decarboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p12.1
Genomic location:
Preferred name:
NM_001082971.2(DDC):c.232G>T (p.Ala78Ser)
HGVS:
  • NC_000007.14:g.50539998C>A
  • NG_008742.1:g.30459G>T
  • NM_000790.4:c.232G>T
  • NM_001082971.2:c.232G>TMANE SELECT
  • NM_001242886.2:c.202-2019G>T
  • NM_001242887.2:c.232G>T
  • NM_001242888.2:c.201+3887G>T
  • NM_001242889.2:c.232G>T
  • NM_001242890.2:c.232G>T
  • NP_000781.2:p.Ala78Ser
  • NP_001076440.2:p.Ala78Ser
  • NP_001229816.2:p.Ala78Ser
  • NP_001229818.2:p.Ala78Ser
  • NP_001229819.2:p.Ala78Ser
  • NC_000007.13:g.50607696C>A
  • NM_000790.3:c.232G>T
  • NR_033845.1:n.346C>A
Protein change:
A78S
Links:
dbSNP: rs140276979
NCBI 1000 Genomes Browser:
rs140276979
Molecular consequence:
  • NM_001242886.2:c.202-2019G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001242888.2:c.201+3887G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000790.4:c.232G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001082971.2:c.232G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242887.2:c.232G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242889.2:c.232G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242890.2:c.232G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033845.1:n.346C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003543758Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 21, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003543758.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.232G>T (p.A78S) alteration is located in exon 3 (coding exon 2) of the DDC gene. This alteration results from a G to T substitution at nucleotide position 232, causing the alanine (A) at amino acid position 78 to be replaced by a serine (S). Based on data from the Genome Aggregation Database (gnomAD) database, the DDC c.232G>T alteration was observed in <0.01% (1/250480) of total alleles studied, with a frequency of 0.01% (1/16158) in the African subpopulation. This amino acid position is highly conserved in available vertebrate species. The p.A78S alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024