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NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 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:
RCV002557637.2

Allele description [Variation Report for NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp)]

NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp)

Gene:
PEPD:peptidase D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp)
Other names:
p.Ala485Asp
HGVS:
  • NC_000019.10:g.33387372G>T
  • NG_013358.2:g.139522C>A
  • NM_000285.3:c.1454C>A
  • NM_000285.4:c.1454C>AMANE SELECT
  • NM_001166056.2:c.1331C>A
  • NM_001166057.2:c.1262C>A
  • NP_000276.2:p.Ala485Asp
  • NP_001159528.1:p.Ala444Asp
  • NP_001159529.1:p.Ala421Asp
  • NC_000019.9:g.33878278G>T
  • NM_000285.4:c.1454C>A
Protein change:
A421D
Links:
dbSNP: rs781570190
NCBI 1000 Genomes Browser:
rs781570190
Molecular consequence:
  • NM_000285.4:c.1454C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166056.2:c.1331C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166057.2:c.1262C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003627863Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 28, 2021) 		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, SCV003627863.2

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

Description

The c.1454C>A (p.A485D) alteration is located in exon 15 (coding exon 15) of the PEPD gene. This alteration results from a C to A substitution at nucleotide position 1454, causing the alanine (A) at amino acid position 485 to be replaced by an aspartic acid (D). 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