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NM_001128159.3(VPS53):c.1447G>T (p.Val483Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 2023
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:
RCV003220997.2

Allele description [Variation Report for NM_001128159.3(VPS53):c.1447G>T (p.Val483Leu)]

NM_001128159.3(VPS53):c.1447G>T (p.Val483Leu)

Gene:
VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
NM_001128159.3(VPS53):c.1447G>T (p.Val483Leu)
HGVS:
  • NC_000017.11:g.562612C>A
  • NG_034190.1:g.157245G>T
  • NM_001128159.3:c.1447G>TMANE SELECT
  • NM_001366253.2:c.1447G>T
  • NM_001366254.2:c.853G>T
  • NM_018289.4:c.1360G>T
  • NP_001121631.1:p.Val483Leu
  • NP_001353182.1:p.Val483Leu
  • NP_001353183.1:p.Val285Leu
  • NP_060759.2:p.Val454Leu
  • NC_000017.10:g.465852C>A
  • NM_001128159.2:c.1447G>T
Protein change:
V285L
Molecular consequence:
  • NM_001128159.3:c.1447G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366253.2:c.1447G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366254.2:c.853G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018289.4:c.1360G>T - 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
SCV003912443Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 14, 2023) 		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, SCV003912443.2

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

Description

The c.1447G>T (p.V483L) alteration is located in exon 14 (coding exon 14) of the VPS53 gene. This alteration results from a G to T substitution at nucleotide position 1447, causing the valine (V) at amino acid position 483 to be replaced by a leucine (L). 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: May 1, 2024