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NM_018668.5(VPS33B):c.1595G>A (p.Arg532Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2022
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:
RCV003051222.2

Allele description [Variation Report for NM_018668.5(VPS33B):c.1595G>A (p.Arg532Gln)]

NM_018668.5(VPS33B):c.1595G>A (p.Arg532Gln)

Gene:
VPS33B:VPS33B late endosome and lysosome associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_018668.5(VPS33B):c.1595G>A (p.Arg532Gln)
HGVS:
  • NC_000015.10:g.90999962C>T
  • NG_012162.1:g.27642G>A
  • NM_001289148.1:c.1514G>A
  • NM_001289149.1:c.1322G>A
  • NM_018668.3:c.1595G>A
  • NM_018668.5:c.1595G>AMANE SELECT
  • NP_001276077.1:p.Arg505Gln
  • NP_001276078.1:p.Arg441Gln
  • NP_061138.3:p.Arg532Gln
  • NP_061138.3:p.Arg532Gln
  • LRG_884t1:c.1595G>A
  • LRG_884:g.27642G>A
  • LRG_884p1:p.Arg532Gln
  • NC_000015.9:g.91543192C>T
  • NM_018668.4:c.1595G>A
Protein change:
R441Q
Molecular consequence:
  • NM_001289148.1:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289149.1:c.1322G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018668.5:c.1595G>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
SCV003746000Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 1, 2022) 		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, SCV003746000.2

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

Description

The c.1595G>A (p.R532Q) alteration is located in exon 21 (coding exon 21) of the VPS33B gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the arginine (R) at amino acid position 532 to be replaced by a glutamine (Q). 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